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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: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: 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;   RDO:0000210
 xref: GARD:5696;   ICD10CM:F84.2;   NCI:C75488
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rett syndrome
DNA:missense mutations:cds:
CTD
ClinVar
PMID:18414213, PMID:19241098, PMID:19396824, PMID:23242510 RGD:11070543 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Egr2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19000991 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Foxg1 forkhead box G1 ISS OMIM:312750 | OMIM:613454 MouseDO NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:9872317, PMID:25262651, PMID:25741868, PMID:26740508, PMID:27541642, PMID:28492532, PMID:28856709, PMID:29100083 NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Rett's disorder ClinVar PMID:15712379 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO protein:increased expression:locus ceruleus RGD PMID:21307341 RGD:8662896 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO
IMP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Rett syndrome
ClinVar Annotator: match by term: Rett's disorder
ClinVar Annotator: match by term: Rett Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:312750
DNA:deletions:exons, introns, 3' utr:multiple (human)
ClinVar
CTD
OMIM
PMID:1057790, PMID:1105898, PMID:1191367, PMID:1241840, PMID:1402105, PMID:2460487, PMID:5300597, PMID:8177735, PMID:9377804, PMID:9546328, PMID:10508514, PMID:10577905, PMID:10737989, PMID:10745042, PMID:10767337, PMID:10805343, PMID:10814718, PMID:10814719, PMID:10852707, PMID:10854091, PMID:10944834, PMID:10944854, PMID:10986043, PMID:10991688, PMID:10991689, PMID:11007980, PMID:11022934, PMID:11035019, PMID:11055848, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11071498, PMID:11106359, PMID:11214906, PMID:11227330, PMID:11238684, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11283201, PMID:11283202, PMID:11309367, PMID:11309679, PMID:11313756, PMID:11313764, PMID:11331619, PMID:11376998, PMID:11392517, PMID:11402105, PMID:11446411, PMID:11453972, PMID:11462237, PMID:11469283, PMID:11524737, PMID:11524741, PMID:11738860, PMID:11738864, PMID:11738865, PMID:11738866, PMID:11738879, PMID:11738883, PMID:11738885, PMID:11746022, PMID:11772708, PMID:11805248, PMID:11885030, PMID:11896459, PMID:11896461, PMID:11913564, PMID:11913567, PMID:11930274, PMID:11960578, PMID:12065946, PMID:12075485, PMID:12081725, PMID:12111643, PMID:12111644, PMID:12161600, PMID:12180070, PMID:12210319, PMID:12325019, PMID:12325033, PMID:12384770, PMID:12418965, PMID:12481990, PMID:12567420, PMID:12615169, PMID:12655490, PMID:12673788, PMID:12707062, PMID:12707946, PMID:12746405, PMID:12746406, PMID:12770674, PMID:12843318, PMID:12872250, PMID:12872251, PMID:12966522, PMID:12966523, PMID:14536082, PMID:14560307, PMID:14593183, PMID:14598336, PMID:14649554, PMID:14974082, PMID:14986829, PMID:15000811, PMID:15034579, PMID:15057977, PMID:15070486, PMID:15173251, PMID:15211631, PMID:15228575, PMID:15241799, PMID:15287421, PMID:15389714, PMID:15526954, PMID:15557528, PMID:15558314, PMID:15578581, PMID:15689438, PMID:15691364, PMID:15712379, PMID:15737703, PMID:15841480, PMID:15857422, PMID:15866439, PMID:16077729, PMID:16077736, PMID:16080119, PMID:16122633, PMID:16155192, PMID:16169931, PMID:16182490, PMID:16183801, PMID:16225173, PMID:16376510, PMID:16473305, PMID:16629931, PMID:16630165, PMID:16670375, PMID:16672765, PMID:16690727, PMID:16763963, PMID:16829352, PMID:16832102, PMID:16844334, PMID:16879196, PMID:16905679, PMID:16965328, PMID:16966553, PMID:17026625, PMID:17084570, PMID:17089071, PMID:17142618, PMID:17236109, PMID:17267601, PMID:17276711, PMID:17341617, PMID:17351020, PMID:17370310, PMID:17383248, PMID:17387578, PMID:17420824, PMID:17427193, PMID:17433737, PMID:17440498, PMID:17505203, PMID:17881312, PMID:17914728, PMID:17968969, PMID:17986102, PMID:18021529, PMID:18174548, PMID:18174559, PMID:18332345, PMID:18334558, PMID:18337588, PMID:18414213, PMID:18499664, PMID:18562141, PMID:18652533, PMID:18678449, PMID:18688080, PMID:18842453, PMID:18989701, PMID:19000991, PMID:19034540, PMID:19133691, PMID:19189931, PMID:19190538, PMID:19217433, PMID:19309269, PMID:19309283, PMID:19365833, PMID:19371229, PMID:19442733, PMID:19552836, PMID:19559301, PMID:19573459, PMID:19652677, PMID:19722030, PMID:19724012, PMID:19914908, PMID:19921286, PMID:20031356, PMID:20093853, PMID:20098342, PMID:20108430, PMID:20116947, PMID:20142466, PMID:20151026, PMID:20231667, PMID:20301670, PMID:20376788, PMID:20384458, PMID:20479760, PMID:20625242, PMID:20631224, PMID:20661168, PMID:21154482, PMID:21160487, PMID:21178819, PMID:21212452, PMID:21300488, PMID:21316312, PMID:21372149, PMID:21420494, PMID:21575601, PMID:21695138, PMID:21764336, PMID:21812101, PMID:21831886, PMID:21871116, PMID:21878110, PMID:21940684, PMID:21954873, PMID:21966470, PMID:21982064, PMID:22001500, PMID:22182064, PMID:22213695, PMID:22277191, PMID:22343140, PMID:22368975, PMID:22476991, PMID:22497713, PMID:22525432, PMID:22532851, PMID:22561697, PMID:22923521, PMID:23238081, PMID:23260135, PMID:23262346, PMID:23270700, PMID:23421866, PMID:23452848, PMID:23591336, PMID:23696494, PMID:23770565, PMID:23770587, PMID:23810759, PMID:23859859, PMID:23866855, PMID:23892605, PMID:23921973, PMID:24033266, PMID:24283265, PMID:24328834, PMID:24399845, PMID:24458799, PMID:24508304, PMID:24511209, PMID:24626160, PMID:24715477, PMID:24776741, PMID:24916645, PMID:24970834, PMID:25167861, PMID:25326635, PMID:25473036, PMID:25541993, PMID:25634563, PMID:25644311, PMID:25741868, PMID:26175308, PMID:26214522, PMID:26254891, PMID:26350204, PMID:26418480, PMID:26467025, PMID:26490184, PMID:26604147, PMID:26647311, PMID:26741492, PMID:26842955, PMID:26936630, PMID:26984561, PMID:27159028, PMID:27255190, PMID:27354166, PMID:27442528, PMID:27465203, PMID:27799067, PMID:27824329, PMID:27929079, PMID:28250423, PMID:28397838, PMID:28492532, PMID:28498846, PMID:28544139, PMID:28592917, PMID:28785396, PMID:29655203, PMID:29720203, PMID:29961512, PMID:30311386, PMID:30536762, PMID:32214227, PMID:32581362, PMID:32860008, PMID:11214906, PMID:18396005, PMID:11242117, PMID:16183801 RGD:1601319, RGD:12790974, RGD:12743654, RGD:1601318 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mir199a2 microRNA 199a-2 ISS OMIM:312750 | OMIM:613454 MouseDO NCBI chr13:80,125,487...80,125,596
Ensembl chr13:80,125,487...80,125,596
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214522 NCBI chr 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848
JBrowse link
G Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:25741868, PMID:29276004 NCBI chr15:51,465,148...51,485,562
Ensembl chr15:51,465,148...51,485,692
JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 severity ISO RGD PMID:20869373 RGD:9590158 NCBI chr 2:196,495,867...196,527,412
Ensembl chr 2:196,495,867...196,527,127
JBrowse link
G Zfp275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:15841480, PMID:16473305, PMID:16829352 NCBI chr  X:157,457,399...157,474,263
Ensembl chr  X:157,457,515...157,474,219
JBrowse link
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117, PMID:19780792, PMID:20493745, PMID:21770923, PMID:23184456, PMID:23828526, PMID:25315662, PMID:28492532 NCBI chr  X:35,151,376...35,200,501 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO ClinVar Annotator: match by OMIM:300672
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:
ClinVar
OMIM
PMID:15492925, PMID:15499549, PMID:15689447, PMID:15917271, PMID:16015284, PMID:16326141, PMID:16330482, PMID:16611748, PMID:16813600, PMID:17256798, PMID:17993579, PMID:18063413, PMID:18076117, PMID:18414213, PMID:18564362, PMID:18790821, PMID:18809835, PMID:19161156, PMID:19241098, PMID:19253388, PMID:19362436, PMID:19396824, PMID:19428276, PMID:19471977, PMID:19564592, PMID:19740913, PMID:19780792, PMID:19793311, PMID:19807736, PMID:20397747, PMID:20479760, PMID:20493745, PMID:20602487, PMID:20848651, PMID:21160487, PMID:21293276, PMID:21309761, PMID:21318334, PMID:21482751, PMID:21765152, PMID:21770923, PMID:21775177, PMID:21802232, PMID:22264704, PMID:22430159, PMID:22670135, PMID:22678952, PMID:22779007, PMID:22812903, PMID:22832775, PMID:22867051, PMID:22872100, PMID:22922712, PMID:22982301, PMID:23064044, PMID:23151060, PMID:23184456, PMID:23236174, PMID:23238081, PMID:23242510, PMID:23262346, PMID:23583054, PMID:23647072, PMID:23828526, PMID:23934111, PMID:24564546, PMID:24715584, PMID:25266480, PMID:25315662, PMID:25326635, PMID:25657822, PMID:25741868, PMID:25819767, PMID:26467025, PMID:26482601, PMID:27081548, PMID:27187038, PMID:27848944, PMID:28492532, PMID:28837158, PMID:29190809, PMID:29264392, PMID:29390993, PMID:29420175, PMID:29444904, PMID:29655203, PMID:30311386, PMID:30776697, PMID:31791873, PMID:22678952 RGD:12791015 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117, PMID:19780792, PMID:20493745, PMID:21770923, PMID:23184456, PMID:23828526, PMID:25315662, PMID:28492532 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117, PMID:19780792, PMID:20493745, PMID:21770923, PMID:23184456, PMID:23828526, PMID:25315662, PMID:28492532 NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar PMID:15499549, PMID:16813600, PMID:18076117, PMID:18414213, PMID:18564362, PMID:19241098, PMID:19428276, PMID:19780792, PMID:20479760, PMID:20493745, PMID:21160487, PMID:21770923, PMID:21775177, PMID:21802232, PMID:22867051, PMID:23184456, PMID:23242510, PMID:23828526, PMID:25315662, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29264392, PMID:29655203, PMID:30311386 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117, PMID:19780792, PMID:20493745, PMID:21770923, PMID:23184456, PMID:23828526, PMID:25315662, PMID:28492532 NCBI chr  X:34,676,728...34,694,251 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117, PMID:19780792, PMID:20493745, PMID:21770923, PMID:23184456, PMID:23828526, PMID:25315662, PMID:28492532 NCBI chr  X:35,305,235...35,431,271
Ensembl chr  X:35,305,236...35,431,164
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, PMID:16611748, PMID:16813600, PMID:17993579, PMID:18063413, PMID:18266744, PMID:18414213, PMID:18790821, PMID:19161156, PMID:19241098, PMID:19253388, PMID:19428276, PMID:19455595, PMID:19471977, PMID:19740913, PMID:19780792, PMID:19793311, PMID:19807736, PMID:20493745, PMID:21160487, PMID:21293276, PMID:21318334, PMID:21765152, PMID:21770923, PMID:21775177, PMID:22430159, PMID:22670135, PMID:22670143, PMID:22678952, PMID:22779007, PMID:22867051, PMID:22872100, PMID:22982301, PMID:23151060, PMID:23238081, PMID:23583054, PMID:24564546, PMID:24916645, PMID:25266480, PMID:25741868, PMID:25819767, PMID:26467025, PMID:26708753, PMID:27528505, PMID:27848944, PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:8177735, PMID:10508514, PMID:10854091, PMID:11035019, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11269512, PMID:11283202, PMID:11313756, PMID:11524741, PMID:11738883, PMID:12180070, PMID:12615169, PMID:15057977, PMID:15558314, PMID:15737703, PMID:16169931, PMID:16832102, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17351020, PMID:17387578, PMID:18337588, PMID:19914908, PMID:21154482, PMID:23421866, PMID:24399845, PMID:24458799, PMID:27354166, PMID:28492532 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:19428276, PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
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 OMIM:613454
ClinVar Annotator: match by term: Rett syndrome, congenital variant
OMIM
ClinVar
PMID:2760358, PMID:18414213, PMID:18571142, PMID:19564653, PMID:19578037, PMID:19623215, PMID:19806373, PMID:20356955, PMID:20734096, PMID:20736978, PMID:21270142, PMID:21280142, PMID:21441262, PMID:21488007, PMID:22091895, PMID:22129046, PMID:22190898, PMID:22258524, PMID:22739344, PMID:22968132, PMID:22998673, PMID:23757202, PMID:24412290, PMID:24766421, PMID:24836831, PMID:24901346, PMID:25326635, PMID:25356899, PMID:25565401, PMID:25741868, PMID:25914188, PMID:26344814, PMID:26364767, PMID:26467025, PMID:26542077, PMID:26544041, PMID:26938784, PMID:27001178, PMID:27029630, PMID:27640358, PMID:28492532, PMID:28544139, PMID:28554332, PMID:28661489, PMID:28851325, PMID:29852413, PMID:30525188, PMID:30533527, PMID:32581362 NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
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 null
ClinVar Annotator: match by term: Rett syndrome, zappella variant
ClinVar PMID:1191367, PMID:8177735, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10814718, PMID:10852707, PMID:10854091, PMID:10991688, PMID:11035019, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11309679, PMID:11313756, PMID:11376998, PMID:11402105, PMID:11462237, PMID:11469283, PMID:11738866, PMID:11738879, PMID:11738885, PMID:11746022, PMID:11913567, PMID:11960578, PMID:12111643, PMID:12180070, PMID:12567420, PMID:12615169, PMID:12673788, PMID:12707946, PMID:12746406, PMID:12770674, PMID:12843318, PMID:12966523, PMID:14560307, PMID:15057977, PMID:15173251, PMID:15526954, PMID:15558314, PMID:15737703, PMID:16122633, PMID:16169931, PMID:16473305, PMID:16832102, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17986102, PMID:18332345, PMID:18337588, PMID:18414213, PMID:18562141, PMID:18989701, PMID:19652677, PMID:19722030, PMID:20031356, PMID:20301670, PMID:21154482, PMID:21160487, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22368975, PMID:23260135, PMID:23262346, PMID:23421866, PMID:23810759, PMID:23859859, PMID:24399845, PMID:24458799, PMID:25741868, PMID:26175308, PMID:26418480, PMID:26467025, PMID:26647311, PMID:26842955, PMID:27354166, PMID:27929079, PMID:28492532, PMID:29655203, PMID:30311386 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link

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Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Rett syndrome 19
        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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      Mental Retardation, X-Linked 661
                        Rett syndrome 19
                          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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.