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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:autosomal recessive non-syndromic intellectual disability
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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.

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autosomal recessive non-syndromic intellectual disability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr20:19,948,767...20,480,628
Ensembl chr20:20,105,047...20,480,623 		JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr19:25,246,912...25,261,965
Ensembl chr19:25,246,913...25,261,946 		JBrowse link
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 7:36,395,665...36,408,588
Ensembl chr 7:36,395,665...36,408,588 		JBrowse link
G Crbn cereblon ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 4:138,864,910...138,885,786
Ensembl chr 4:138,866,761...138,885,556 		JBrowse link
G Cyhr1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability ClinVar PMID:30787422 NCBI chr 7:117,720,909...117,722,734
Ensembl chr 7:117,706,727...117,722,723 		JBrowse link
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability ClinVar PMID:30787422 NCBI chr 7:116,928,264...116,942,981
Ensembl chr 7:116,928,265...116,936,674 		JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793 		JBrowse link
G Kptn kaptin (actin binding protein) ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 1:78,015,714...78,016,508
Ensembl chr 1:78,015,722...78,023,676 		JBrowse link
G Lins1 lines homolog 1 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 1:127,599,647...127,625,583
Ensembl chr 1:127,604,197...127,625,577 		JBrowse link
G Med23 mediator complex subunit 23 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910 		JBrowse link
G Mettl23 methyltransferase like 23 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr10:105,787,935...105,793,307
Ensembl chr10:105,787,935...105,792,598 		JBrowse link
G Mroh6 maestro heat-like repeat family member 6 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability ClinVar PMID:30787422 NCBI chr 7:116,914,826...116,921,487
Ensembl chr 7:116,915,888...116,920,507 		JBrowse link
G Nsun2 NOP2/Sun RNA methyltransferase 2 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 1:36,295,650...36,319,906
Ensembl chr 1:36,295,650...36,319,966 		JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 9:61,066,170...61,134,963
Ensembl chr 9:61,066,175...61,134,963 		JBrowse link
G Prss12 serine protease 12 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 2:227,657,983...227,717,884
Ensembl chr 2:227,657,983...227,717,884 		JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 7:94,698,987...94,755,924
Ensembl chr 7:94,698,987...94,755,924 		JBrowse link
G Tecr trans-2,3-enoyl-CoA reductase ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr19:24,705,478...24,732,024
Ensembl chr19:24,705,481...24,732,024 		JBrowse link
G Tti2 TELO2 interacting protein 2 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr16:64,737,342...64,745,207
Ensembl chr16:64,737,340...64,745,207 		JBrowse link
G Tusc3 tumor suppressor candidate 3 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502 		JBrowse link
G Washc4 WASH complex subunit 4 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 7:26,309,279...26,361,221
Ensembl chr 7:26,311,094...26,361,221 		JBrowse link
autosomal recessive mental retardation 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
ClinVar Annotator: match by term: ALWADEI SYNDROME		 ClinVar
OMIM		 PMID:25741868 PMID:27612186 NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096 		JBrowse link
Mental Retardation, Autosomal Recessive 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prss12 serine protease 12 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 1
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:12459588 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 2:227,657,983...227,717,884
Ensembl chr 2:227,657,983...227,717,884 		JBrowse link
Mental Retardation, Autosomal Recessive 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 12
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:17120046 PMID:18414213 PMID:21907012 PMID:25741868 PMID:28492532 PMID:32666583 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191 		JBrowse link
Mental Retardation, Autosomal Recessive 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecr trans-2,3-enoyl-CoA reductase ISO ClinVar Annotator: match by OMIM:614020 OMIM
ClinVar		 PMID:11590547 PMID:21212097 PMID:22981120 PMID:24220030 NCBI chr19:24,705,478...24,732,024
Ensembl chr19:24,705,481...24,732,024 		JBrowse link
Mental Retardation, Autosomal Recessive 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 15
ClinVar Annotator: match by OMIM:614202		 OMIM
ClinVar		 PMID:18414213 PMID:21763484 PMID:24348268 PMID:24566669 PMID:25741868 PMID:26279649 PMID:27148587 PMID:28492532 PMID:28940310 PMID:29908352 NCBI chr 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049 		JBrowse link
Mental Retardation, Autosomal Recessive 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 18 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 18
ClinVar Annotator: match by OMIM:614249		 OMIM
ClinVar		 PMID:21868677 PMID:25741868 PMID:28492532 NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910 		JBrowse link
Mental Retardation, Autosomal Recessive 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crbn cereblon ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 2 OMIM
ClinVar		 PMID:10932263 PMID:15557513 PMID:18414909 PMID:23983124 PMID:24088041 PMID:24993823 PMID:25741868 PMID:26633545 PMID:28143899 PMID:28492532 NCBI chr 4:138,864,910...138,885,786
Ensembl chr 4:138,866,761...138,885,556 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 2 ClinVar PMID:10932263 PMID:15557513 PMID:18414909 PMID:23983124 PMID:24088041 PMID:24993823 PMID:26633545 PMID:28143899 PMID:28492532 NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217 		JBrowse link
Mental Retardation, Autosomal Recessive 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by OMIM:614340
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 27		 ClinVar
OMIM		 PMID:21937992 PMID:23773660 PMID:25741868 PMID:28492532 NCBI chr 1:127,599,647...127,625,583
Ensembl chr 1:127,604,197...127,625,577 		JBrowse link
Mental Retardation, Autosomal Recessive 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 3
ClinVar Annotator: match by OMIM:608443		 OMIM
ClinVar		 PMID:16033914 PMID:24026677 PMID:24033266 PMID:25066123 PMID:25741868 PMID:26350204 PMID:27799067 PMID:28492532 NCBI chr19:25,246,912...25,261,965
Ensembl chr19:25,246,913...25,261,946 		JBrowse link
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
ClinVar Annotator: match by OMIM:614499		 OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 NCBI chr 7:36,395,665...36,408,588
Ensembl chr 7:36,395,665...36,408,588 		JBrowse link
Mental Retardation, Autosomal Recessive 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 36 OMIM
ClinVar		 PMID:23620220 PMID:25558065 PMID:25741868 PMID:26842963 PMID:29796286 PMID:32214227 PMID:32860008 NCBI chr 7:11,977,285...11,981,814 JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 36 ClinVar PMID:23620220 PMID:25558065 PMID:25741868 PMID:26842963 PMID:29796286 PMID:32214227 PMID:32860008 NCBI chr 7:11,969,720...11,982,141
Ensembl chr 7:11,969,720...11,982,141 		JBrowse link
Mental Retardation, Autosomal Recessive 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 37
ClinVar Annotator: match by OMIM:615493		 OMIM
ClinVar		 PMID:23390136 PMID:25741868 PMID:28492532 PMID:29302074 NCBI chr20:19,948,767...20,480,628
Ensembl chr20:20,105,047...20,480,623 		JBrowse link
Mental Retardation, Autosomal Recessive 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 38
ClinVar Annotator: match by OMIM:615516		 OMIM
ClinVar		 PMID:23065719 PMID:23243086 PMID:24033266 PMID:25741868 NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793 		JBrowse link
Mental Retardation, Autosomal Recessive 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mak16 MAK16 homolog ISO ClinVar Annotator: match by This custom term has been created by RGD curators. ClinVar PMID:23956177 NCBI chr16:64,729,254...64,737,807
Ensembl chr16:64,729,221...64,737,807 		JBrowse link
G Tti2 TELO2 interacting protein 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 39
ClinVar Annotator: match by OMIM:615541		 OMIM
ClinVar		 PMID:21937992 PMID:23956177 PMID:25741868 NCBI chr16:64,737,342...64,745,207
Ensembl chr16:64,737,340...64,745,207 		JBrowse link
Mental Retardation, Autosomal Recessive 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 40
ClinVar Annotator: match by OMIM:615599		 OMIM
ClinVar		 PMID:18414213 PMID:21937992 PMID:22633631 PMID:24084144 NCBI chr 7:94,698,987...94,755,924
Ensembl chr 7:94,698,987...94,755,924 		JBrowse link
Mental Retardation, Autosomal Recessive 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kptn kaptin (actin binding protein) ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 41 OMIM
ClinVar		 PMID:24239382 PMID:25741868 PMID:25847626 PMID:28492532 PMID:32238909 NCBI chr 1:78,015,714...78,016,508
Ensembl chr 1:78,015,722...78,023,676 		JBrowse link
Mental Retardation, Autosomal Recessive 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 42 OMIM
ClinVar		 PMID:17711852 PMID:25741868 PMID:25804403 PMID:26350515 PMID:28492532 NCBI chr 9:61,066,170...61,134,963
Ensembl chr 9:61,066,175...61,134,963 		JBrowse link
Mental Retardation, Autosomal Recessive 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Washc4 WASH complex subunit 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 43
ClinVar Annotator: match by OMIM:615817		 OMIM
ClinVar		 PMID:21498477 PMID:25741868 NCBI chr 7:26,309,279...26,361,221
Ensembl chr 7:26,311,094...26,361,221 		JBrowse link
Mental Retardation, Autosomal Recessive 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mettl23 methyltransferase like 23 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 44 ClinVar
OMIM		 PMID:24501276 PMID:24626631 PMID:25741868 PMID:32860008 NCBI chr10:105,787,935...105,793,307
Ensembl chr10:105,787,935...105,792,598 		JBrowse link
Mental Retardation, Autosomal Recessive 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo31 F-box protein 31 ISO OMIM NCBI chr19:53,487,610...53,625,673
Ensembl chr19:53,487,613...53,625,673 		JBrowse link
Mental Retardation, Autosomal Recessive 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 46
ClinVar Annotator: match by OMIM:616116		 OMIM
ClinVar		 PMID:21937992 PMID:25125150 PMID:25741868 PMID:27620904 PMID:27870114 NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885 		JBrowse link
Mental Retardation, Autosomal Recessive 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 47 ClinVar
OMIM		 PMID:25480035 PMID:25741868 NCBI chr13:92,569,256...92,887,302 JBrowse link
Mental Retardation, Autosomal Recessive 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a17 solute carrier family 6 member 17 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 48 ClinVar
OMIM		 PMID:25704603 NCBI chr 2:210,249,663...210,299,770
Ensembl chr 2:210,249,663...210,299,770 		JBrowse link
Mental Retardation, Autosomal Recessive 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 49 ClinVar
OMIM		 PMID:25741868 PMID:25758935 PMID:27601654 PMID:28374019 PMID:29226631 PMID:29882329 PMID:31471722 PMID:32214227 NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071 		JBrowse link
Mental Retardation, Autosomal Recessive 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsun2 NOP2/Sun RNA methyltransferase 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 5
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:611091		 OMIM
ClinVar		 PMID:17120046 PMID:18414213 PMID:21063731 PMID:22541559 PMID:22541562 PMID:22577224 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 1:36,295,650...36,319,906
Ensembl chr 1:36,295,650...36,319,966 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 5 ClinVar PMID:26989088 PMID:27334371 PMID:28492532 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437 		JBrowse link
Mental Retardation, Autosomal Recessive 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 50 ClinVar
OMIM		 PMID:25701870 NCBI chr 8:62,482,126...62,527,665
Ensembl chr 8:62,482,140...62,526,202 		JBrowse link
Mental Retardation, Autosomal Recessive 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 ClinVar
OMIM		 PMID:26206890 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102 		JBrowse link
Mental Retardation, Autosomal Recessive 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman2l lectin, mannose-binding 2-like ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 52 ClinVar
OMIM		 PMID:26566883 NCBI chr 9:43,020,940...43,023,015
Ensembl chr 9:42,999,229...43,022,999 		JBrowse link
Mental Retardation, Autosomal Recessive 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 ClinVar
OMIM		 PMID:25741868 PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592 		JBrowse link
Mental Retardation, Autosomal Recessive 54 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnik TRAF2 and NCK interacting kinase ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 54 ClinVar
OMIM		 PMID:27106596 NCBI chr 2:113,984,599...114,391,805
Ensembl chr 2:113,984,646...114,384,894 		JBrowse link
Mental Retardation, Autosomal Recessive 55 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 55 ClinVar PMID:25741868 PMID:27055666 PMID:28454995 PMID:31474318 NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 55 OMIM
ClinVar		 PMID:25741868 PMID:27055666 PMID:28454995 PMID:31474318 NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162 		JBrowse link
Mental Retardation, Autosomal Recessive 56 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 56		 ClinVar
OMIM		 PMID:21734151 PMID:25741868 PMID:28492532 NCBI chr 6:122,729,834...122,767,462
Ensembl chr 6:122,729,874...122,767,462 		JBrowse link
Mental Retardation, Autosomal Recessive 57 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mboat7 membrane bound O-acyltransferase domain containing 7 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 57		 ClinVar
OMIM		 PMID:25741868 PMID:27616480 NCBI chr 1:64,100,159...64,114,437
Ensembl chr 1:64,101,018...64,113,792 		JBrowse link
Mental Retardation, Autosomal Recessive 58 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp2 elongator acetyltransferase complex subunit 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 58
ClinVar Annotator: match by term: ELP2-Related Disorders		 ClinVar
OMIM		 PMID:21937992 PMID:25741868 PMID:25847581 NCBI chr18:16,544,515...16,581,086
Ensembl chr18:16,544,508...16,581,116 		JBrowse link
Mental Retardation, Autosomal Recessive 59 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impa1 inositol monophosphatase 1 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 ClinVar
OMIM		 PMID:26416544 NCBI chr 2:93,675,203...93,696,355
Ensembl chr 2:93,675,203...93,696,232 		JBrowse link
Mental Retardation, Autosomal Recessive 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO ClinVar Annotator: match by OMIM:611092
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:17847003 PMID:25039795 NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709 		JBrowse link
Mental Retardation, Autosomal Recessive 60 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf13 TATA-box binding protein associated factor 13 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 ClinVar
OMIM		 PMID:28257693 NCBI chr 2:211,359,623...211,370,285
Ensembl chr 2:211,359,623...211,370,284 		JBrowse link
Mental Retardation, Autosomal Recessive 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 ClinVar
OMIM		 PMID:29784083 NCBI chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869 		JBrowse link
Mental Retardation, Autosomal Recessive 64 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 ClinVar
OMIM		 PMID:28837161 NCBI chr 8:61,272,125...61,455,480
Ensembl chr 8:61,274,017...61,290,240 		JBrowse link
Mental Retardation, Autosomal Recessive 65 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 ClinVar
OMIM		 PMID:25741868 PMID:29276005 PMID:30217758 PMID:30409806 NCBI chr13:51,384,371...51,455,392
Ensembl chr13:51,384,389...51,455,357 		JBrowse link
Mental Retardation, Autosomal Recessive 66 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 ClinVar
OMIM		 PMID:25558065 PMID:25741868 PMID:27311568 PMID:28097321 PMID:31334606 NCBI chr 4:159,483,089...159,518,387
Ensembl chr 4:159,483,131...159,515,447 		JBrowse link
Mental Retardation, Autosomal Recessive 67 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif3f eukaryotic translation initiation factor 3, subunit F ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 OMIM
ClinVar		 PMID:25741868 PMID:30409806 NCBI chr 1:173,532,826...173,541,806
Ensembl chr 1:173,532,803...173,541,847 		JBrowse link
Mental Retardation, Autosomal Recessive 68 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 ClinVar
OMIM		 PMID:21937992 PMID:25741868 PMID:26308914 PMID:30289604 NCBI chr19:25,798,262...25,813,458
Ensembl chr19:25,803,262...25,813,467 		JBrowse link
Mental Retardation, Autosomal Recessive 69 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb11 zinc finger and BTB domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 OMIM
ClinVar		 PMID:29893856 NCBI chr11:47,079,201...47,113,993
Ensembl chr11:47,079,234...47,113,993 		JBrowse link
Mental Retardation, Autosomal Recessive 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 7
ClinVar Annotator: match by OMIM:611093		 OMIM
ClinVar		 PMID:18452889 PMID:18455129 PMID:21681106 PMID:21739581 PMID:23806237 PMID:25741868 PMID:27148795 PMID:28492532 NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502 		JBrowse link
Mental Retardation, Autosomal Recessive 70 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rsrc1 arginine and serine rich coiled-coil 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 OMIM
ClinVar		 PMID:28640246 PMID:29522154 NCBI chr 2:164,126,898...164,533,652 JBrowse link
Mental Retardation, Autosomal Recessive 71 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 ClinVar
OMIM		 PMID:31079898 NCBI chr 6:18,877,885...18,952,773
Ensembl chr 6:18,877,907...18,949,393 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Neurodevelopmental Disorders 4534
        intellectual disability 2171
          non-syndromic intellectual disability 269
            autosomal recessive non-syndromic intellectual disability 56
              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 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 35 0
              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 1
              Mental Retardation, Autosomal Recessive 7 1
              Mental Retardation, Autosomal Recessive 70 1
              Mental Retardation, Autosomal Recessive 71 1
              Mental Retardation, Autosomal Recessive 9 0
              autosomal recessive mental retardation 61 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    non-syndromic intellectual disability 269
                      autosomal recessive non-syndromic intellectual disability 56
                        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 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 35 0
                        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 1
                        Mental Retardation, Autosomal Recessive 7 1
                        Mental Retardation, Autosomal Recessive 70 1
                        Mental Retardation, Autosomal Recessive 71 1
                        Mental Retardation, Autosomal Recessive 9 0
                        autosomal recessive mental retardation 61 1
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