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ONTOLOGY REPORT - ANNOTATIONS


Term:Intellectual disability, moderate
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Accession:HP:0002342 term browser browse the term
Definition:Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Synonyms:exact_synonym: IQ between 34 and 49;   Moderate mental deficiency;   Moderate mental retardation
 alt_id: HP:0007303
 xref: SNOMEDCT_US:61152003;   UMLS:C0026351


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Intellectual disability, moderate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGTR2 angiotensin II receptor type 2 JBrowse link X 116,170,744 116,174,974 RGD:8699517
G AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 JBrowse link 4 106,315,610 106,349,456 RGD:8699517
G AKT1 AKT serine/threonine kinase 1 JBrowse link 14 104,769,349 104,795,748 RGD:8699517
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 111,680,741 111,764,164 RGD:8699517
G ALX4 ALX homeobox 4 JBrowse link 11 44,260,440 44,310,139 RGD:8699517
G ANK3 ankyrin 3 JBrowse link 10 60,026,298 60,733,528 RGD:8699517
G ANKRD11 ankyrin repeat domain 11 JBrowse link 16 89,267,619 89,490,561 RGD:8699517
G AP1S2 adaptor related protein complex 1 subunit sigma 2 JBrowse link X 15,825,806 15,854,966 RGD:8699517
G APC APC regulator of WNT signaling pathway JBrowse link 5 112,707,498 112,846,239 RGD:8699517
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 JBrowse link X 136,665,547 136,780,945 RGD:8699517
G ARX aristaless related homeobox JBrowse link X 25,003,694 25,015,965 RGD:8699517
G ASXL3 ASXL transcriptional regulator 3 JBrowse link 18 33,578,219 33,751,195 RGD:8699517
G ATRX ATRX chromatin remodeler JBrowse link X 77,504,878 77,786,235 RGD:8699517
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 1 235,440,654 235,504,481 RGD:8699517
G C12orf4 chromosome 12 open reading frame 4 JBrowse link 12 4,487,730 4,538,508 RGD:8699517
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 JBrowse link 22 36,560,869 36,702,858 RGD:8699517
G CAMKMT calmodulin-lysine N-methyltransferase JBrowse link 2 44,361,714 44,772,592 RGD:8699517
G CASK calcium/calmodulin dependent serine protein kinase JBrowse link X 41,514,934 41,923,554 RGD:8699517
G CC2D1A coiled-coil and C2 domain containing 1A JBrowse link 19 13,906,149 13,930,879 RGD:8699517
G CC2D2A coiled-coil and C2 domain containing 2A JBrowse link 4 15,468,660 15,601,971 RGD:8699517
G CDH11 cadherin 11 JBrowse link 16 64,943,753 65,126,112 RGD:8699517
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 JBrowse link 9 120,388,869 120,580,170 RGD:8699517
G CENPJ centromere protein J JBrowse link 13 24,882,279 24,922,889 RGD:8699517
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 15 32,030,462 32,173,018 RGD:8699517
G CLCN4 chloride voltage-gated channel 4 JBrowse link X 10,156,945 10,237,660 RGD:8699517
G CLIP1 CAP-Gly domain containing linker protein 1 JBrowse link 12 122,271,431 122,422,956 RGD:8699517
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 10 102,918,293 103,090,222 RGD:8699517
G COQ8A coenzyme Q8A JBrowse link 1 226,939,339 226,987,544 RGD:8699517
G CRADD CASP2 and RIPK1 domain containing adaptor with death domain JBrowse link 12 93,677,342 93,894,840 RGD:8699517
G CRBN cereblon JBrowse link 3 3,148,490 3,179,717 RGD:8699517
G CUL4B cullin 4B JBrowse link X 120,524,589 120,575,829 RGD:8699517
G CWF19L1 CWF19 like cell cycle control factor 1 JBrowse link 10 100,232,298 100,267,638 RGD:8699517
G CXorf56 chromosome X open reading frame 56 JBrowse link X 119,538,149 119,565,409 RGD:8699517
G DCPS decapping enzyme, scavenger JBrowse link 11 126,304,060 126,350,005 RGD:8699517
G DCX doublecortin JBrowse link X 111,293,779 111,412,205 RGD:11568595
G DLG3 discs large MAGUK scaffold protein 3 JBrowse link X 70,444,835 70,505,490 RGD:8699517
G DMD dystrophin JBrowse link X 31,119,219 33,339,460 RGD:8699517
G DMXL2 Dmx like 2 JBrowse link 15 51,447,722 51,622,833 RGD:8699517
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 2 25,227,874 25,342,590 RGD:8699517
G EBP EBP cholestenol delta-isomerase JBrowse link X 48,521,808 48,528,716 RGD:8699517
G EDC3 enhancer of mRNA decapping 3 JBrowse link 15 74,630,558 74,696,434 RGD:8699517
G EGF epidermal growth factor JBrowse link 4 109,912,883 110,013,766 RGD:8699517
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 JBrowse link 10 95,710,901 95,877,266 RGD:8699517
G EZR ezrin JBrowse link 6 158,765,744 158,819,368 RGD:8699517
G FAM126A family with sequence similarity 126 member A JBrowse link 7 22,895,848 23,014,133 RGD:8699517
G FBXO31 F-box protein 31 JBrowse link 16 87,326,987 87,392,121 RGD:8699517
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,478,330 121,598,458 RGD:8699517
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,793,293 1,808,872 RGD:8699517
G FMN2 formin 2 JBrowse link 1 240,091,883 240,475,187 RGD:8699517
G FMR1 FMRP translational regulator 1 JBrowse link X 147,911,919 147,951,127 RGD:8699517
G FRMPD4 FERM and PDZ domain containing 4 JBrowse link X 11,822,439 12,724,523 RGD:8699517
G FRRS1L ferric chelate reductase 1 like JBrowse link 9 109,130,293 109,167,291 RGD:8699517
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 JBrowse link X 48,476,021 48,486,364 RGD:8699517
G GDI1 GDP dissociation inhibitor 1 JBrowse link X 154,437,154 154,443,467 RGD:8699517
G GLUD1 glutamate dehydrogenase 1 JBrowse link 10 87,050,202 87,094,843 RGD:8699517
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 JBrowse link 6 101,393,708 102,070,083 RGD:8699517
G GTF2E2 general transcription factor IIE subunit 2 JBrowse link 8 30,578,318 30,658,241 RGD:8699517
G HCFC1 host cell factor C1 JBrowse link X 153,947,556 153,972,360 RGD:8699517
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 1 23,801,877 23,825,459 RGD:8699517
G HNMT histamine N-methyltransferase JBrowse link 2 137,964,068 138,016,364 RGD:8699517
G HPRT1 hypoxanthine phosphoribosyltransferase 1 JBrowse link X 134,460,165 134,500,668 RGD:8699517
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 53,532,096 53,686,723 RGD:8699517
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 JBrowse link X 28,587,446 29,956,718 RGD:8699517
G INPP5E inositol polyphosphate-5-phosphatase E JBrowse link 9 136,428,619 136,439,861 RGD:8699517
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 JBrowse link X 53,225,784 53,321,356 RGD:8699517
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 1 160,037,467 160,070,160 RGD:8699517
G KDM5B lysine demethylase 5B JBrowse link 1 202,724,495 202,809,470 RGD:8699517
G KIF5A kinesin family member 5A JBrowse link 12 57,550,039 57,586,633 RGD:8699517
G KLF13 Kruppel like factor 13 JBrowse link 15 31,326,835 31,435,665 RGD:8699517
G LINS1 lines homolog 1 JBrowse link 15 100,566,914 100,603,032 RGD:8699517
G LMAN2L lectin, mannose binding 2 like JBrowse link 2 96,705,929 96,740,092 RGD:8699517
G MAB21L2 mab-21 like 2 JBrowse link 4 150,582,151 150,584,693 RGD:8699517
G MAN1B1 mannosidase alpha class 1B member 1 JBrowse link 9 137,086,941 137,109,183 RGD:8699517
G MBOAT7 membrane bound O-acyltransferase domain containing 7 JBrowse link 19 54,173,412 54,189,882 RGD:8699517
G MECP2 methyl-CpG binding protein 2 JBrowse link X 154,021,573 154,097,731 RGD:8699517
G MED12 mediator complex subunit 12 JBrowse link X 71,118,596 71,142,450 RGD:8699517
G MED13L mediator complex subunit 13L JBrowse link 12 115,958,576 116,277,219 RGD:8699517
G MED23 mediator complex subunit 23 JBrowse link 6 131,573,966 131,628,242 RGD:8699517
G MED25 mediator complex subunit 25 JBrowse link 19 49,818,279 49,840,384 RGD:8699517
G METTL23 methyltransferase like 23 JBrowse link 17 76,725,876 76,733,881 RGD:8699517
G MID2 midline 2 JBrowse link X 107,820,453 107,931,637 RGD:8699517
G MT-TE mitochondrially encoded tRNA glutamic acid JBrowse link MT 14,674 14,742 RGD:8699517
G NCAPD2 non-SMC condensin I complex subunit D2 JBrowse link 12 6,494,102 6,531,955 RGD:8699517
G NCAPH non-SMC condensin I complex subunit H JBrowse link 2 96,335,766 96,377,091 RGD:8699517
G NDST1 N-deacetylase and N-sulfotransferase 1 JBrowse link 5 150,497,779 150,558,211 RGD:8699517
G NFIX nuclear factor I X JBrowse link 19 12,995,475 13,098,796 RGD:8699517
G NHS NHS actin remodeling regulator JBrowse link X 17,375,200 17,735,994 RGD:8699517
G NSUN2 NOP2/Sun RNA methyltransferase 2 JBrowse link 5 6,599,239 6,633,044 RGD:8699517
G PAK3 p21 (RAC1) activated kinase 3 JBrowse link X 110,944,241 111,227,361 RGD:8699517
G PAX1 paired box 1 JBrowse link 20 21,705,659 21,718,486 RGD:8699517
G PCDH19 protocadherin 19 JBrowse link X 100,291,644 100,410,273 RGD:8699517
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 JBrowse link 2 196,833,004 196,926,995 RGD:8699517
G PIGC phosphatidylinositol glycan anchor biosynthesis class C JBrowse link 1 172,441,457 172,444,069 RGD:8699517
G POLR3A RNA polymerase III subunit A JBrowse link 10 77,975,149 78,029,515 RGD:8699517
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B JBrowse link 2 44,168,803 44,247,330 RGD:8699517
G PREPL prolyl endopeptidase like JBrowse link 2 44,317,607 44,361,862 RGD:8699517
G PRSS12 serine protease 12 JBrowse link 4 118,280,038 118,353,042 RGD:8699517
G PSPH phosphoserine phosphatase JBrowse link 7 56,010,487 56,051,604 RGD:8699517
G PTCHD1 patched domain containing 1 JBrowse link X 23,334,369 23,404,374 RGD:8699517
G PTDSS1 phosphatidylserine synthase 1 JBrowse link 8 96,261,902 96,336,995 RGD:8699517
G PUF60 poly(U) binding splicing factor 60 JBrowse link 8 143,816,344 143,830,041 RGD:8699517
G RAB39B RAB39B, member RAS oncogene family JBrowse link X 155,258,235 155,264,491 RGD:8699517
G RBMX RNA binding motif protein X-linked JBrowse link X 136,869,192 136,880,780 RGD:8699517
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) JBrowse link 2 121,530,880 121,531,009 RGD:8699517
G RPGRIP1L RPGRIP1 like JBrowse link 16 53,598,153 53,703,938 RGD:8699517
G RPS6KA3 ribosomal protein S6 kinase A3 JBrowse link X 20,149,911 20,267,514 RGD:8699517
G RSRC1 arginine and serine rich coiled-coil 1 JBrowse link 3 158,110,052 158,545,730 RGD:8699517
G RTTN rotatin JBrowse link 18 70,003,031 70,205,726 RGD:8699517
G SARS1 seryl-tRNA synthetase 1 JBrowse link 1 109,213,893 109,238,182 RGD:8699517
G SHANK3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 22 50,674,391 50,733,212 RGD:8699517
G SLC35A3 solute carrier family 35 member A3 JBrowse link 1 99,968,401 100,035,634 RGD:8699517
G SLC3A1 solute carrier family 3 member 1 JBrowse link 2 44,275,464 44,321,494 RGD:8699517
G SLC45A1 solute carrier family 45 member 1 JBrowse link 1 8,318,085 8,344,167 RGD:8699517
G SLC9A7 solute carrier family 9 member A7 JBrowse link X 46,599,251 46,759,163 RGD:8699517
G SMOC1 SPARC related modular calcium binding 1 JBrowse link 14 69,879,388 70,032,366 RGD:8699517
G STAG2 stromal antigen 2 JBrowse link X 123,960,560 124,102,656 RGD:8699517
G SYP synaptophysin JBrowse link X 49,187,812 49,200,202 RGD:8699517
G TBCD tubulin folding cofactor D JBrowse link 17 82,752,048 82,945,914 RGD:8699517
G TCF4 transcription factor 4 JBrowse link 18 55,222,185 55,635,957 RGD:8699517
G TECR trans-2,3-enoyl-CoA reductase JBrowse link 19 14,527,752 14,565,980 RGD:8699517
G TGM6 transglutaminase 6 JBrowse link 20 2,380,901 2,432,753 RGD:8699517
G TMEM67 transmembrane protein 67 JBrowse link 8 93,754,844 93,832,653 RGD:8699517
G TMEM70 transmembrane protein 70 JBrowse link 8 73,976,142 73,982,783 RGD:8699517
G TNIK TRAF2 and NCK interacting kinase JBrowse link 3 171,058,414 171,460,408 RGD:8699517
G TRAPPC9 trafficking protein particle complex 9 JBrowse link 8 139,727,725 140,458,579 RGD:8699517
G TSPAN7 tetraspanin 7 JBrowse link X 38,561,478 38,688,918 RGD:8699517
G TUBB3 tubulin beta 3 class III JBrowse link 16 89,921,925 89,936,097 RGD:8699517
G TUSC3 tumor suppressor candidate 3 JBrowse link 8 15,540,087 15,766,649 RGD:8699517
G TWIST1 twist family bHLH transcription factor 1 JBrowse link 7 19,113,047 19,117,636 RGD:8699517
G UBE2A ubiquitin conjugating enzyme E2 A JBrowse link X 119,574,563 119,584,423 RGD:8699517
G UPF3B UPF3B regulator of nonsense mediated mRNA decay JBrowse link X 119,805,311 119,853,028 RGD:8699517
G USP27X ubiquitin specific peptidase 27 X-linked JBrowse link X 49,879,484 49,882,558 RGD:8699517
G USP9X ubiquitin specific peptidase 9 X-linked JBrowse link X 41,085,420 41,236,579 RGD:8699517
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial JBrowse link 1 119,031,216 119,140,788 RGD:8699517
G WASHC4 WASH complex subunit 4 JBrowse link 12 105,107,726 105,169,134 RGD:8699517
G WDFY3 WD repeat and FYVE domain containing 3 JBrowse link 4 84,669,547 84,966,690 RGD:8699517
G ZC3H14 zinc finger CCCH-type containing 14 JBrowse link 14 88,562,982 88,627,596 RGD:8699517
G ZIC1 Zic family member 1 JBrowse link 3 147,409,365 147,416,719 RGD:8699517
G ZNF41 zinc finger protein 41 JBrowse link X 47,444,691 47,485,934 RGD:8699517
G ZNF711 zinc finger protein 711 JBrowse link X 85,243,820 85,273,362 RGD:8699517
G ZNF81 zinc finger protein 81 JBrowse link X 47,836,864 47,925,626 RGD:8699517

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  Human phenotype 5901
    Phenotypic abnormality 5897
      Abnormality of the nervous system 3219
        Abnormality of nervous system physiology 2987
          Neurodevelopmental abnormality 2192
            Intellectual disability 1560
              Intellectual disability, moderate 141
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.