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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:non-syndromic X-linked intellectual disability
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Accession:DOID:0050776 term browser browse the term
Definition:A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. (DO)
Synonyms:exact_synonym: X-linked non-specific mental retardation
 primary_id: MESH:C564490
 xref: OMIM:PS309530;   ORDO:777
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
non-syndromic X-linked intellectual disability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:113,596,247...113,660,024
Ensembl chr  X:113,596,239...113,659,944
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability
ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:159,722,031...159,841,344
Ensembl chr  X:159,723,866...159,841,072
JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:79,817,968...79,909,891
Ensembl chr  X:79,824,782...79,909,678
JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISS OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 MouseDO NCBI chr  X:70,596,246...70,648,529
Ensembl chr  X:70,596,576...70,648,532
JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO DNA:missense mutation:cds:p.P312L (human) RGD PMID:11940089 RGD:11554032 NCBI chr  X:20,100,942...20,143,871
Ensembl chr  X:20,216,587...20,225,955
Ensembl chr  X:20,216,587...20,225,955
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO
ISS
DNA:nonsense mutation, missense mutation:cds:p.R70X, p.L92P (human)
OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549
DNA:missense mutation:cds:p.R423P (human)
MouseDO PMID:9620768, PMID:9668174 RGD:13208823, RGD:13208831 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404
JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:55,439,388...57,004,865
Ensembl chr  X:55,439,578...56,765,893
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISS OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 MouseDO NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G LOC100363372 zinc finger protein 81 (HFZ20)-like ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:1,034,455...1,112,282
Ensembl chr  X:1,031,035...1,076,850
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:15351775 PMID:26605526 PMID:27247049 PMID:29618507 PMID:32043567 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:114,784,452...115,042,683
Ensembl chr  X:114,929,029...115,036,669
JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:84,099,618...84,167,717
Ensembl chr  X:84,099,618...84,167,717
JBrowse link
G Ptchd1 patched domain containing 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:42,558,912...42,610,430
Ensembl chr  X:42,558,931...42,614,242
JBrowse link
G Rlim ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25735484 NCBI chr  X:73,757,664...73,778,763
Ensembl chr  X:73,762,691...73,778,674
Ensembl chr  X:73,762,691...73,778,674
JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:84,062,363...84,095,888
Ensembl chr  X:84,064,427...84,096,617
JBrowse link
chromosome Xp11.22 duplication syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO OMIM NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
non-syndromic X-linked intellectual disability 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 1
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked mental retardation 18
ClinVar Annotator: match by OMIM:309530
OMIM
ClinVar
CTD
PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9536098 PMID:9628581 PMID:12210308 PMID:15197169 PMID:15669143 PMID:17576681 PMID:18414213 PMID:20473311 PMID:21686261 PMID:23020937 PMID:23674175 PMID:23934111 PMID:24306141 PMID:24759409 PMID:25741868 PMID:25914188 PMID:26467025 PMID:26539891 PMID:26544041 PMID:26633542 PMID:26733290 PMID:26793055 PMID:26795593 PMID:27009485 PMID:27369185 PMID:27652284 PMID:27665735 PMID:27864847 PMID:28220259 PMID:28295041 PMID:28492532 PMID:28815955 PMID:29302074 PMID:29322350 PMID:29720203 PMID:30206421 PMID:30666632 PMID:31415821 PMID:33624935 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Mental retardation, X-linked 1 ClinVar PMID:20400964 PMID:21990120 PMID:22006311 PMID:22538716 PMID:24139550 PMID:24315737 PMID:24549055 PMID:24800917 PMID:25452441 PMID:25741868 PMID:26261251 PMID:26681312 PMID:28123851 PMID:28152038 PMID:28492532 PMID:28905878 PMID:29053726 PMID:29255180 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 ClinVar PMID:28492532 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
non-syndromic X-linked intellectual disability 100 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Mental retardation, X-linked 100 OMIM
ClinVar
PMID:25741868 NCBI chr  X:70,461,700...70,561,084
Ensembl chr  X:70,461,718...70,561,189
JBrowse link
non-syndromic X-linked intellectual disability 101 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 101 ClinVar
OMIM
PMID:24115387 PMID:25741868 NCBI chr  X:112,019,897...112,121,980
Ensembl chr  X:112,020,646...112,121,943
JBrowse link
non-syndromic X-linked intellectual disability 103 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl15 kelch-like family member 15 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 103
ClinVar Annotator: match by term: Mental retardation, X-linked 103
ClinVar
OMIM
PMID:24817631 PMID:25644381 PMID:25741868 NCBI chr  X:63,342,277...63,390,915
Ensembl chr  X:63,343,546...63,389,989
JBrowse link
non-syndromic X-linked intellectual disability 104 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmpd4 FERM and PDZ domain containing 4 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 104 ClinVar
OMIM
PMID:25644381 PMID:25741868 PMID:29267967 NCBI chr  X:27,231,648...28,206,890
Ensembl chr  X:28,072,826...28,204,260
JBrowse link
non-syndromic X-linked intellectual disability 105 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 105
ClinVar Annotator: match by term: Mental retardation, X-linked 105
ClinVar
OMIM
PMID:25644381 PMID:25741868 NCBI chr  X:15,987,964...15,991,149
Ensembl chr  X:15,988,604...15,990,484
JBrowse link
non-syndromic X-linked intellectual disability 106 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 106 ClinVar
OMIM
PMID:9083067 PMID:12724313 PMID:21240259 PMID:25679214 PMID:25741868 PMID:26273451 PMID:28302723 PMID:28584052 PMID:29769320 PMID:31627256 NCBI chr  X:71,540,870...71,585,906
Ensembl chr  X:71,528,988...71,585,908
JBrowse link
non-syndromic X-linked intellectual disability 107 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 ClinVar
OMIM
PMID:25741868 PMID:29374277 NCBI chr  X:123,460,280...123,486,814
Ensembl chr  X:123,460,280...123,486,814
JBrowse link
non-syndromic X-linked intellectual disability 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 19
ClinVar Annotator: match by OMIM:300844
OMIM
ClinVar
PMID:10319851 PMID:11180593 PMID:17100996 PMID:19377476 PMID:25741868 PMID:28492532 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624
JBrowse link
non-syndromic X-linked intellectual disability 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Mental retardation 21, X-linked
ClinVar Annotator: match by OMIM:300143
OMIM
ClinVar
PMID:8230164 PMID:10471494 PMID:16470793 PMID:18801879 PMID:19012350 PMID:21484992 PMID:25741868 PMID:28492532 NCBI chr  X:55,439,388...57,004,865
Ensembl chr  X:55,439,578...56,765,893
JBrowse link
non-syndromic X-linked intellectual disability 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Mental retardation 30, X-linked
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47
ClinVar Annotator: match by OMIM:300558
OMIM
ClinVar
PMID:8826460 PMID:9332663 PMID:9731525 PMID:10946356 PMID:12884430 PMID:17853471 PMID:18523455 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:114,784,452...115,042,683
Ensembl chr  X:114,929,029...115,036,669
JBrowse link
non-syndromic X-linked intellectual disability 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by OMIM:300849
ClinVar Annotator: match by term: X-Linked Mental Retardation 41
OMIM
ClinVar
PMID:8826463 PMID:9106537 PMID:9620768 PMID:9668174 PMID:25741868 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404
JBrowse link
non-syndromic X-linked intellectual disability 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100363372 zinc finger protein 81 (HFZ20)-like ISO ClinVar Annotator: match by OMIM:300498 OMIM
ClinVar
PMID:10398246 PMID:15121780 NCBI chr  X:1,034,455...1,112,282
Ensembl chr  X:1,031,035...1,076,850
JBrowse link
non-syndromic X-linked intellectual disability 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Mental retardation 46, X-linked
ClinVar Annotator: match by term: X-linked mental retardation 46
OMIM
ClinVar
PMID:11017088 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:159,722,031...159,841,344
Ensembl chr  X:159,723,866...159,841,072
JBrowse link
non-syndromic X-linked intellectual disability 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syn1 synapsin I ISO ClinVar Annotator: match by term: Mental retardation, X-linked 50 OMIM
ClinVar
PMID:9415477 PMID:21441247 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28973667 NCBI chr  X:1,321,315...1,379,202
Ensembl chr  X:1,321,315...1,379,198
JBrowse link
non-syndromic X-linked intellectual disability 58 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: X-linked mental retardation 58
ClinVar Annotator: match by OMIM:300210
OMIM
ClinVar
PMID:10449641 PMID:10655063 PMID:12070254 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 NCBI chr  X:13,261,551...13,282,886
Ensembl chr  X:13,261,558...13,279,099
JBrowse link
non-syndromic X-linked intellectual disability 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: Mental retardation 63, X-linked
ClinVar Annotator: match by OMIM:300387
OMIM
ClinVar
PMID:11889465 PMID:12525535 PMID:25741868 NCBI chr  X:113,596,247...113,660,024
Ensembl chr  X:113,596,239...113,659,944
JBrowse link
non-syndromic X-linked intellectual disability 82 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO OMIM NCBI chr  X:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385
JBrowse link
non-syndromic X-linked intellectual disability 88 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: X-Linked Mental Retardation 88 ClinVar PMID:12089445 PMID:12746399 PMID:14598163 PMID:14722754 PMID:16283672 PMID:18414213 PMID:23871722 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
non-syndromic X-linked intellectual disability 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Mental retardation 9, X-linked
ClinVar Annotator: match by OMIM:309549
OMIM
ClinVar
PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:25741868 NCBI chr  X:14,993,685...15,006,010
Ensembl chr  X:14,994,016...15,002,074
JBrowse link
non-syndromic X-linked intellectual disability 90 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: X-Linked mental retardation 90
ClinVar Annotator: match by OMIM:300850
OMIM
ClinVar
PMID:15185169 PMID:23020937 PMID:24721225 PMID:25741868 PMID:28492532 NCBI chr  X:70,596,246...70,648,529
Ensembl chr  X:70,596,576...70,648,532
JBrowse link
non-syndromic X-linked intellectual disability 91 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Mental retardation 91, X-linked OMIM
ClinVar
PMID:15915161 PMID:25741868 NCBI chr  X:75,433,957...75,566,531
Ensembl chr  X:75,439,778...75,566,481
JBrowse link
non-syndromic X-linked intellectual disability 93 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 93
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY
ClinVar Annotator: match by OMIM:300659
OMIM
ClinVar
PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr  X:79,817,968...79,909,891
Ensembl chr  X:79,824,782...79,909,678
JBrowse link
non-syndromic X-linked intellectual disability 96 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syp synaptophysin ISO ClinVar Annotator: match by term: Mental retardation, X-linked 96
ClinVar Annotator: match by OMIM:300802
OMIM
ClinVar
PMID:19377476 PMID:25741868 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436
JBrowse link
non-syndromic X-linked intellectual disability 97 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: ZNF711-Related X-linked Mental Retardation ClinVar NCBI chr  X:84,099,618...84,167,717
Ensembl chr  X:84,099,618...84,167,717
JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: ZNF711-Related X-linked Mental Retardation
ClinVar Annotator: match by OMIM:300803
OMIM
ClinVar
PMID:10398247 PMID:19377476 PMID:25741868 PMID:27993705 PMID:28492532 NCBI chr  X:84,062,363...84,095,888
Ensembl chr  X:84,064,427...84,096,617
JBrowse link
non-syndromic X-linked intellectual disability 98 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Mental retardation, X-linked 98
ClinVar Annotator: match by OMIM:300912
OMIM
ClinVar
PMID:15466006 PMID:23615299 PMID:24307393 PMID:25741868 PMID:25900396 PMID:26576034 PMID:26633542 PMID:27358180 PMID:27568816 PMID:28492532 PMID:32860008 NCBI chr  X:74,943,440...75,053,559
Ensembl chr  X:74,945,082...74,968,405
JBrowse link
non-syndromic X-linked intellectual disability 99 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 99 ClinVar PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Mental retardation, X-linked 99
ClinVar Annotator: match by term: USP9X related disorders
ClinVar
OMIM
PMID:19377476 PMID:24607389 PMID:25741868 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297
JBrowse link
non-syndromic X-linked intellectual disability ARX-related term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Mental retardation, with or without seizures, ARX-related, X-linked
ClinVar Annotator: match by term: Mental retardation, X-linked 52
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87
ClinVar Annotator: match by term: X-linked mental retardation, with or without seizures, ARX-related
ClinVar Annotator: match by OMIM:300419
OMIM
ClinVar
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12379852 PMID:12640086 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:16523516 PMID:17331656 PMID:17480217 PMID:17641262 PMID:18414213 PMID:19439424 PMID:20300201 PMID:20506206 PMID:21204215 PMID:21204226 PMID:21496008 PMID:25741868 PMID:26029707 PMID:26467025 PMID:28492532 PMID:30255221 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
X-linked intellectual developmental disorder 108 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108 OMIM
ClinVar
PMID:25741868 PMID:30335141 NCBI chr  X:2,434,918...2,615,936
Ensembl chr  X:2,435,305...2,614,770
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Neurodevelopmental Disorders 5563
        intellectual disability 3384
          Mental Retardation, X-Linked 717
            non-syndromic X-linked intellectual disability 38
              X-linked intellectual developmental disorder 108 1
              chromosome Xp11.22 duplication syndrome 1
              non-syndromic X-linked intellectual disability 1 3
              non-syndromic X-linked intellectual disability 100 1
              non-syndromic X-linked intellectual disability 101 1
              non-syndromic X-linked intellectual disability 103 1
              non-syndromic X-linked intellectual disability 104 1
              non-syndromic X-linked intellectual disability 105 1
              non-syndromic X-linked intellectual disability 106 1
              non-syndromic X-linked intellectual disability 107 1
              non-syndromic X-linked intellectual disability 14 0
              non-syndromic X-linked intellectual disability 19 1
              non-syndromic X-linked intellectual disability 2 0
              non-syndromic X-linked intellectual disability 20 0
              non-syndromic X-linked intellectual disability 21 1
              non-syndromic X-linked intellectual disability 23 0
              non-syndromic X-linked intellectual disability 30 1
              non-syndromic X-linked intellectual disability 41 1
              non-syndromic X-linked intellectual disability 42 0
              non-syndromic X-linked intellectual disability 45 1
              non-syndromic X-linked intellectual disability 46 1
              non-syndromic X-linked intellectual disability 50 1
              non-syndromic X-linked intellectual disability 53 0
              non-syndromic X-linked intellectual disability 58 1
              non-syndromic X-linked intellectual disability 63 1
              non-syndromic X-linked intellectual disability 72 0
              non-syndromic X-linked intellectual disability 73 0
              non-syndromic X-linked intellectual disability 77 0
              non-syndromic X-linked intellectual disability 81 0
              non-syndromic X-linked intellectual disability 82 1
              non-syndromic X-linked intellectual disability 84 0
              non-syndromic X-linked intellectual disability 88 1
              non-syndromic X-linked intellectual disability 89 0
              non-syndromic X-linked intellectual disability 9 1
              non-syndromic X-linked intellectual disability 90 1
              non-syndromic X-linked intellectual disability 91 1
              non-syndromic X-linked intellectual disability 92 0
              non-syndromic X-linked intellectual disability 93 1
              non-syndromic X-linked intellectual disability 96 1
              non-syndromic X-linked intellectual disability 97 2
              non-syndromic X-linked intellectual disability 98 1
              non-syndromic X-linked intellectual disability 99 2
              non-syndromic X-linked intellectual disability ARX-related 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              developmental disorder of mental health 4267
                specific developmental disorder 3531
                  intellectual disability 3384
                    syndromic intellectual disability 752
                      Mental Retardation, X-Linked 717
                        non-syndromic X-linked intellectual disability 38
                          X-linked intellectual developmental disorder 108 1
                          chromosome Xp11.22 duplication syndrome 1
                          non-syndromic X-linked intellectual disability 1 3
                          non-syndromic X-linked intellectual disability 100 1
                          non-syndromic X-linked intellectual disability 101 1
                          non-syndromic X-linked intellectual disability 103 1
                          non-syndromic X-linked intellectual disability 104 1
                          non-syndromic X-linked intellectual disability 105 1
                          non-syndromic X-linked intellectual disability 106 1
                          non-syndromic X-linked intellectual disability 107 1
                          non-syndromic X-linked intellectual disability 14 0
                          non-syndromic X-linked intellectual disability 19 1
                          non-syndromic X-linked intellectual disability 2 0
                          non-syndromic X-linked intellectual disability 20 0
                          non-syndromic X-linked intellectual disability 21 1
                          non-syndromic X-linked intellectual disability 23 0
                          non-syndromic X-linked intellectual disability 30 1
                          non-syndromic X-linked intellectual disability 41 1
                          non-syndromic X-linked intellectual disability 42 0
                          non-syndromic X-linked intellectual disability 45 1
                          non-syndromic X-linked intellectual disability 46 1
                          non-syndromic X-linked intellectual disability 50 1
                          non-syndromic X-linked intellectual disability 53 0
                          non-syndromic X-linked intellectual disability 58 1
                          non-syndromic X-linked intellectual disability 63 1
                          non-syndromic X-linked intellectual disability 72 0
                          non-syndromic X-linked intellectual disability 73 0
                          non-syndromic X-linked intellectual disability 77 0
                          non-syndromic X-linked intellectual disability 81 0
                          non-syndromic X-linked intellectual disability 82 1
                          non-syndromic X-linked intellectual disability 84 0
                          non-syndromic X-linked intellectual disability 88 1
                          non-syndromic X-linked intellectual disability 89 0
                          non-syndromic X-linked intellectual disability 9 1
                          non-syndromic X-linked intellectual disability 90 1
                          non-syndromic X-linked intellectual disability 91 1
                          non-syndromic X-linked intellectual disability 92 0
                          non-syndromic X-linked intellectual disability 93 1
                          non-syndromic X-linked intellectual disability 96 1
                          non-syndromic X-linked intellectual disability 97 2
                          non-syndromic X-linked intellectual disability 98 1
                          non-syndromic X-linked intellectual disability 99 2
                          non-syndromic X-linked intellectual disability ARX-related 1
paths to the root