ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive non-syndromic intellectual disability
go back to main search page
Accession:DOID:0060308 term browser browse the term
Definition:A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern. (DO)
Synonyms:exact_synonym: autosomal recessive mental retardation;   autosomal recessive non-syndromic mental retardation
 primary_id: RDO:9004979
 xref: OMIM:PS249500;   ORDO:88616
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
autosomal recessive non-syndromic intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ank3 ankyrin 3 JBrowse link 20 19,948,767 20,480,628 RGD:13592920
G Cc2d1a coiled-coil and C2 domain containing 1A JBrowse link 19 25,246,912 25,261,965 RGD:8554872
RGD:13592920
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain JBrowse link 7 36,395,665 36,408,588 RGD:13592920
G Crbn cereblon JBrowse link 4 138,864,910 138,885,786 RGD:13592920
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Eef1d eukaryotic translation elongation factor 1 delta JBrowse link 7 116,928,264 116,942,981 RGD:8554872
G Grik2 glutamate ionotropic receptor kainate type subunit 2 JBrowse link 20 53,791,428 54,517,691 RGD:13592920
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:13592920
G Kptn kaptin (actin binding protein) JBrowse link 1 78,015,714 78,016,508 RGD:13592920
G Lins1 lines homolog 1 JBrowse link 1 127,599,647 127,625,583 RGD:13592920
G Med23 mediator complex subunit 23 JBrowse link 1 21,539,765 21,587,675 RGD:13592920
G Mettl23 methyltransferase like 23 JBrowse link 10 105,787,935 105,793,307 RGD:13592920
G Mroh6 maestro heat-like repeat family member 6 JBrowse link 7 116,914,826 116,921,487 RGD:8554872
G Nsun2 NOP2/Sun RNA methyltransferase 2 JBrowse link 1 36,295,650 36,319,906 RGD:13592920
G Pgap1 post-GPI attachment to proteins 1 JBrowse link 9 61,066,170 61,134,963 RGD:13592920
G Prss12 serine protease 12 JBrowse link 2 227,657,983 227,717,884 RGD:13592920
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:13592920
G Taf2 TATA-box binding protein associated factor 2 JBrowse link 7 94,698,987 94,755,924 RGD:13592920
G Tecr trans-2,3-enoyl-CoA reductase JBrowse link 19 24,705,478 24,732,024 RGD:13592920
G Tti2 TELO2 interacting protein 2 JBrowse link 16 64,737,342 64,745,207 RGD:13592920
G Tusc3 tumor suppressor candidate 3 JBrowse link 16 56,248,125 56,396,491 RGD:13592920
G Washc4 WASH complex subunit 4 JBrowse link 7 26,309,279 26,361,221 RGD:13592920
autosomal recessive mental retardation 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rusc2 RUN and SH3 domain containing 2 JBrowse link 5 58,860,444 58,883,152 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prss12 serine protease 12 JBrowse link 2 227,657,983 227,717,884 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrd gamma-aminobutyric acid type A receptor delta subunit JBrowse link 5 172,797,478 172,809,374 RGD:8554872
G Trappc9 trafficking protein particle complex 9 JBrowse link 7 113,986,363 114,309,090 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tecr trans-2,3-enoyl-CoA reductase JBrowse link 19 24,705,478 24,732,024 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Man1b1 mannosidase, alpha, class 1B, member 1 JBrowse link 3 2,547,259 2,569,051 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:8554872
G Med23 mediator complex subunit 23 JBrowse link 1 21,539,765 21,587,675 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crbn cereblon JBrowse link 4 138,864,910 138,885,786 RGD:7240710
RGD:8554872
G Trnt1 tRNA nucleotidyl transferase 1 JBrowse link 4 138,855,497 138,869,217 RGD:8554872
Mental Retardation, Autosomal Recessive 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lins1 lines homolog 1 JBrowse link 1 127,599,647 127,625,583 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d1a coiled-coil and C2 domain containing 1A JBrowse link 19 25,246,912 25,261,965 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain JBrowse link 7 36,395,665 36,408,588 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adat3 adenosine deaminase, tRNA-specific 3 JBrowse link 7 11,977,285 11,981,814 RGD:7240710
RGD:8554872
G Scamp4 secretory carrier membrane protein 4 JBrowse link 7 11,969,720 11,982,141 RGD:8554872
Mental Retardation, Autosomal Recessive 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ank3 ankyrin 3 JBrowse link 20 19,948,767 20,480,628 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mak16 MAK16 homolog JBrowse link 16 64,729,254 64,737,807 RGD:8554872
G Tti2 TELO2 interacting protein 2 JBrowse link 16 64,737,342 64,745,207 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf2 TATA-box binding protein associated factor 2 JBrowse link 7 94,698,987 94,755,924 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kptn kaptin (actin binding protein) JBrowse link 1 78,015,714 78,016,508 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgap1 post-GPI attachment to proteins 1 JBrowse link 9 61,066,170 61,134,963 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Washc4 WASH complex subunit 4 JBrowse link 7 26,309,279 26,361,221 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mettl23 methyltransferase like 23 JBrowse link 10 105,787,935 105,793,307 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo31 F-box protein 31 JBrowse link 19 53,487,610 53,625,673 RGD:7240710
Mental Retardation, Autosomal Recessive 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fmn2 formin 2 JBrowse link 13 92,569,256 92,887,302 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a17 solute carrier family 6 member 17 JBrowse link 2 210,249,663 210,299,770 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpt2 glutamic--pyruvic transaminase 2 JBrowse link 19 22,599,003 22,633,529 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsun2 NOP2/Sun RNA methyltransferase 2 JBrowse link 1 36,295,650 36,319,906 RGD:7240710
RGD:8554872
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
Mental Retardation, Autosomal Recessive 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edc3 enhancer of mRNA decapping 3 JBrowse link 8 62,482,126 62,527,665 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnmt histamine N-methyltransferase JBrowse link 3 905,111 937,038 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lman2l lectin, mannose-binding 2-like JBrowse link 9 43,020,940 43,023,015 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G JBrowse link 14 2,410,339 2,438,630 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnik TRAF2 and NCK interacting kinase JBrowse link 2 113,984,599 114,391,805 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyls1 HYLS1, centriolar and ciliogenesis associated JBrowse link 8 36,763,470 36,772,199 RGD:8554872
G Pus3 pseudouridine synthase 3 JBrowse link 8 36,760,874 36,769,167 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc3h14 zinc finger CCCH type containing 14 JBrowse link 6 122,729,834 122,767,462 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mboat7 membrane bound O-acyltransferase domain containing 7 JBrowse link 1 64,100,159 64,114,437 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp2 elongator acetyltransferase complex subunit 2 JBrowse link 18 16,544,515 16,581,086 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 59 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Impa1 inositol monophosphatase 1 JBrowse link 2 93,675,203 93,696,355 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grik2 glutamate ionotropic receptor kainate type subunit 2 JBrowse link 20 53,791,428 54,517,691 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 60 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf13 TATA-box binding protein associated factor 13 JBrowse link 2 211,359,623 211,370,285 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camk2a calcium/calmodulin-dependent protein kinase II alpha JBrowse link 18 56,193,978 56,295,869 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 64 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lingo1 leucine rich repeat and Ig domain containing 1 JBrowse link 8 61,272,125 61,455,480 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 65 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm5b lysine demethylase 5B JBrowse link 13 51,384,371 51,455,392 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed JBrowse link 4 159,483,089 159,518,387 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif3f eukaryotic translation initiation factor 3, subunit F JBrowse link 1 173,532,826 173,541,806 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt1 tRNA methyltransferase 1 JBrowse link 19 25,798,262 25,813,458 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tusc3 tumor suppressor candidate 3 JBrowse link 16 56,248,125 56,396,491 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Neurodevelopmental Disorders 2756
        intellectual disability 1158
          non-syndromic intellectual disability 163
            autosomal recessive non-syndromic intellectual disability 55
              Mental Retardation, Autosomal Recessive 1 1
              Mental Retardation, Autosomal Recessive 10 0
              Mental Retardation, Autosomal Recessive 11 0
              Mental Retardation, Autosomal Recessive 12 1
              Mental Retardation, Autosomal Recessive 13 2
              Mental Retardation, Autosomal Recessive 14 1
              Mental Retardation, Autosomal Recessive 15 1
              Mental Retardation, Autosomal Recessive 16 0
              Mental Retardation, Autosomal Recessive 18 2
              Mental Retardation, Autosomal Recessive 19 0
              Mental Retardation, Autosomal Recessive 2 2
              Mental Retardation, Autosomal Recessive 23 0
              Mental Retardation, Autosomal Recessive 24 0
              Mental Retardation, Autosomal Recessive 25 0
              Mental Retardation, Autosomal Recessive 27 1
              Mental Retardation, Autosomal Recessive 28 0
              Mental Retardation, Autosomal Recessive 29 0
              Mental Retardation, Autosomal Recessive 3 1
              Mental Retardation, Autosomal Recessive 30 0
              Mental Retardation, Autosomal Recessive 31 0
              Mental Retardation, Autosomal Recessive 33 0
              Mental Retardation, Autosomal Recessive 34, with variant lissencephaly 1
              Mental Retardation, Autosomal Recessive 36 2
              Mental Retardation, Autosomal Recessive 37 1
              Mental Retardation, Autosomal Recessive 38 1
              Mental Retardation, Autosomal Recessive 39 2
              Mental Retardation, Autosomal Recessive 4 0
              Mental Retardation, Autosomal Recessive 40 1
              Mental Retardation, Autosomal Recessive 41 1
              Mental Retardation, Autosomal Recessive 42 1
              Mental Retardation, Autosomal Recessive 43 1
              Mental Retardation, Autosomal Recessive 44 1
              Mental Retardation, Autosomal Recessive 45 1
              Mental Retardation, Autosomal Recessive 46 1
              Mental Retardation, Autosomal Recessive 47 1
              Mental Retardation, Autosomal Recessive 48 1
              Mental Retardation, Autosomal Recessive 49 1
              Mental Retardation, Autosomal Recessive 5 2
              Mental Retardation, Autosomal Recessive 50 1
              Mental Retardation, Autosomal Recessive 51 1
              Mental Retardation, Autosomal Recessive 52 1
              Mental Retardation, Autosomal Recessive 53 1
              Mental Retardation, Autosomal Recessive 54 1
              Mental Retardation, Autosomal Recessive 55 2
              Mental Retardation, Autosomal Recessive 56 1
              Mental Retardation, Autosomal Recessive 57 1
              Mental Retardation, Autosomal Recessive 58 1
              Mental Retardation, Autosomal Recessive 59 1
              Mental Retardation, Autosomal Recessive 6 1
              Mental Retardation, Autosomal Recessive 60 1
              Mental Retardation, Autosomal Recessive 63 1
              Mental Retardation, Autosomal Recessive 64 1
              Mental Retardation, Autosomal Recessive 65 1
              Mental Retardation, Autosomal Recessive 66 1
              Mental Retardation, Autosomal Recessive 67 1
              Mental Retardation, Autosomal Recessive 68 1
              Mental Retardation, Autosomal Recessive 69 0
              Mental Retardation, Autosomal Recessive 7 1
              Mental Retardation, Autosomal Recessive 9 0
              autosomal recessive mental retardation 61 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    non-syndromic intellectual disability 163
                      autosomal recessive non-syndromic intellectual disability 55
                        Mental Retardation, Autosomal Recessive 1 1
                        Mental Retardation, Autosomal Recessive 10 0
                        Mental Retardation, Autosomal Recessive 11 0
                        Mental Retardation, Autosomal Recessive 12 1
                        Mental Retardation, Autosomal Recessive 13 2
                        Mental Retardation, Autosomal Recessive 14 1
                        Mental Retardation, Autosomal Recessive 15 1
                        Mental Retardation, Autosomal Recessive 16 0
                        Mental Retardation, Autosomal Recessive 18 2
                        Mental Retardation, Autosomal Recessive 19 0
                        Mental Retardation, Autosomal Recessive 2 2
                        Mental Retardation, Autosomal Recessive 23 0
                        Mental Retardation, Autosomal Recessive 24 0
                        Mental Retardation, Autosomal Recessive 25 0
                        Mental Retardation, Autosomal Recessive 27 1
                        Mental Retardation, Autosomal Recessive 28 0
                        Mental Retardation, Autosomal Recessive 29 0
                        Mental Retardation, Autosomal Recessive 3 1
                        Mental Retardation, Autosomal Recessive 30 0
                        Mental Retardation, Autosomal Recessive 31 0
                        Mental Retardation, Autosomal Recessive 33 0
                        Mental Retardation, Autosomal Recessive 34, with variant lissencephaly 1
                        Mental Retardation, Autosomal Recessive 36 2
                        Mental Retardation, Autosomal Recessive 37 1
                        Mental Retardation, Autosomal Recessive 38 1
                        Mental Retardation, Autosomal Recessive 39 2
                        Mental Retardation, Autosomal Recessive 4 0
                        Mental Retardation, Autosomal Recessive 40 1
                        Mental Retardation, Autosomal Recessive 41 1
                        Mental Retardation, Autosomal Recessive 42 1
                        Mental Retardation, Autosomal Recessive 43 1
                        Mental Retardation, Autosomal Recessive 44 1
                        Mental Retardation, Autosomal Recessive 45 1
                        Mental Retardation, Autosomal Recessive 46 1
                        Mental Retardation, Autosomal Recessive 47 1
                        Mental Retardation, Autosomal Recessive 48 1
                        Mental Retardation, Autosomal Recessive 49 1
                        Mental Retardation, Autosomal Recessive 5 2
                        Mental Retardation, Autosomal Recessive 50 1
                        Mental Retardation, Autosomal Recessive 51 1
                        Mental Retardation, Autosomal Recessive 52 1
                        Mental Retardation, Autosomal Recessive 53 1
                        Mental Retardation, Autosomal Recessive 54 1
                        Mental Retardation, Autosomal Recessive 55 2
                        Mental Retardation, Autosomal Recessive 56 1
                        Mental Retardation, Autosomal Recessive 57 1
                        Mental Retardation, Autosomal Recessive 58 1
                        Mental Retardation, Autosomal Recessive 59 1
                        Mental Retardation, Autosomal Recessive 6 1
                        Mental Retardation, Autosomal Recessive 60 1
                        Mental Retardation, Autosomal Recessive 63 1
                        Mental Retardation, Autosomal Recessive 64 1
                        Mental Retardation, Autosomal Recessive 65 1
                        Mental Retardation, Autosomal Recessive 66 1
                        Mental Retardation, Autosomal Recessive 67 1
                        Mental Retardation, Autosomal Recessive 68 1
                        Mental Retardation, Autosomal Recessive 69 0
                        Mental Retardation, Autosomal Recessive 7 1
                        Mental Retardation, Autosomal Recessive 9 0
                        autosomal recessive mental retardation 61 1
paths to the root

NHLBI Logo

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