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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:Language Development Disorders
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Accession:DOID:9005466 term browser browse the term
Definition:Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors.
Synonyms:exact_synonym: Central Auditory Processing Disorder;   Developmental Disorder, Speech or Language;   Developmental Language Disorder;   Developmental Language Disorders;   Language Delay;   Language Delays;   Language Development Disorder;   Semantic Pragmatic Disorder;   Semantic-Pragmatic Disorders;   Speech Delay;   Speech Delays
 narrow_synonym: EXPRESSIVE LANGUAGE DELAY;   LANGUAGE RETARDATION
 primary_id: MESH:D007805;   RDO:0001603
For additional species annotation, visit the Alliance of Genome Resources.



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Language Development Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 PMID:28649782 NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar NCBI chr13:91,481,932...91,536,391
Ensembl chr13:91,481,936...91,536,391
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:32,893,962...32,908,808
Ensembl chr20:32,893,573...32,908,808
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Language delay
CTD
ClinVar
PMID:25741868 PMID:27120335 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:25,990,164...25,993,173
Ensembl chr20:25,990,462...25,993,173
JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:26,066,270...26,072,348
Ensembl chr20:26,066,242...26,072,272
JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:26,095,591...26,097,336
Ensembl chr20:26,095,592...26,097,278
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 PMID:21082657 PMID:21310003 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:31,618,556...31,711,697
Ensembl chr20:31,618,542...31,711,692
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21114665 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Fam184a family with sequence similarity 184, member A ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:32,934,424...33,056,626
Ensembl chr20:32,934,636...33,056,652
JBrowse link
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Language delay ClinVar NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:31,727,617...31,776,928
Ensembl chr20:31,727,620...31,776,903
JBrowse link
G Gprc6a G protein-coupled receptor, class C, group 6, member A ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Speech delay ClinVar NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23933820 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25751627 NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Language retardation ClinVar NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819
JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078
JBrowse link
G Man1a1 mannosidase, alpha, class 1A, member 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:33,202,509...33,385,747
Ensembl chr20:33,202,517...33,385,824
JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Language delay ClinVar NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Speech delay
ClinVar Annotator: match by term: Language delay
ClinVar PMID:10854091 PMID:11055898 PMID:11738883 PMID:12111643 PMID:12966523 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr12:37,807,596...38,004,485
Ensembl chr12:37,808,285...38,004,473
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:32,629,537...32,639,559 JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:31,020,221...31,073,266
Ensembl chr20:31,019,829...31,073,147
JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
JBrowse link
G Rwdd1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:25,949,723...25,967,147
Ensembl chr20:25,941,966...25,967,193
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:17561957 PMID:25741868 PMID:26096185 PMID:28492532 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217958 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 PMID:26392352 PMID:26467025 PMID:26872463 PMID:28492532 NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284256 PMID:17173049 NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 PMID:28492532 NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
JBrowse link
G Trappc3l trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:25,992,835...26,084,938
Ensembl chr20:25,967,502...26,078,989
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 PMID:30275004 NCBI chr20:3,805,774...3,820,468
Ensembl chr20:3,805,776...3,820,298
JBrowse link
G Vgll2 vestigial-like family member 2 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:31,409,529...31,415,408
Ensembl chr20:31,409,552...31,415,408
JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306
JBrowse link
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Far1 fatty acyl CoA reductase 1 ISO ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY ClinVar
OMIM
PMID:33239752 NCBI chr 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730
JBrowse link
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612736
OMIM
ClinVar
CTD
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 ClinVar PMID:12468279 PMID:25741868 PMID:28492532 NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
JBrowse link
Intellectual Developmental Disorder with Autism and Speech Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: AUTS5 ClinVar
OMIM
PMID:25232744 PMID:25741868 PMID:30250039 NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES
ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures
ClinVar
OMIM
PMID:30021165 PMID:31616000 NCBI chr10:90,553,124...90,873,477
Ensembl chr10:90,553,002...90,868,756
JBrowse link
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak1 p21 (RAC1) activated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay
OMIM
ClinVar
PMID:10975528 PMID:25741868 PMID:30290153 NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
JBrowse link
Intellectual Developmental Disorder with Seizures and Language Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd1b SET domain containing 1B, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY
OMIM
ClinVar
PMID:25741868 PMID:29322246 PMID:31110234 PMID:31440728 PMID:31685013 More... NCBI chr12:33,395,963...33,421,671
Ensembl chr12:33,396,120...33,426,934
JBrowse link
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY OMIM
ClinVar
PMID:25741868 PMID:27431290 PMID:33004807 PMID:33048237 NCBI chr 6:87,791,650...87,835,826 JBrowse link
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot3 CCR4-NOT transcription complex, subunit 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES ClinVar
OMIM
PMID:25741868 PMID:31201375 NCBI chr 1:65,555,924...65,572,167
Ensembl chr 1:65,555,924...65,572,167
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11b BAF chromatin remodeling complex subunit BCL11B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES ClinVar
OMIM
PMID:25741868 PMID:27959755 PMID:29985992 NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
JBrowse link
intellectual disability-severe speech delay-mild dysmorphism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Mental retardation with language impairment and with or without autistic features
ClinVar Annotator: match by OMIM:613670
OMIM
ClinVar
PMID:20950788 PMID:24214399 PMID:25131622 PMID:25326635 PMID:25363768 More... NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia OMIM
ClinVar
PMID:25741868 PMID:27523599 PMID:27677260 PMID:30631341 NCBI chr 8:76,076,227...76,104,151
Ensembl chr 8:76,073,306...76,105,069
JBrowse link
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat8 lysine acetyltransferase 8 ISO ClinVar Annotator: match by term: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME ClinVar
OMIM
PMID:31794431 NCBI chr 1:182,524,355...182,536,638 JBrowse link
Luscan-Lumish syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: LUSCAN-LUMISH SYNDROME
ClinVar Annotator: match by term: Luscan-lumish syndrome
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 More... NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2ca protein phosphatase 2 catalytic subunit alpha ISO ClinVar Annotator: match by term: Neurodevelopmental disorder and language delay with or without structural brain abnormalities
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
OMIM
ClinVar
PMID:25741868 PMID:29051493 PMID:30595372 NCBI chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar
OMIM
PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29807643 NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment and behavioral abnormalities
ClinVar
OMIM
PMID:25741868 PMID:31300657 NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES OMIM
ClinVar
PMID:25741868 PMID:32738225 NCBI chr18:57,989,308...58,005,639
Ensembl chr18:57,989,308...58,005,622
JBrowse link
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT OMIM
ClinVar
PMID:25741868 PMID:30661771 NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
JBrowse link
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: SNIJDERS BLOK-CAMPEAU SYNDROME
ClinVar Annotator: match by term: CHD3-Related Disorder
OMIM
ClinVar
PMID:25741868 PMID:28135719 PMID:29463886 PMID:30397230 PMID:31048695 NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
JBrowse link
specific language impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 susceptibility ISO DNA:SNPs: :(human) RGD PMID:18987363 RGD:13450918 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
JBrowse link
G Tm4sf20 transmembrane 4 L six family member 20 ISS OMIM:606711 | OMIM:606712 | OMIM:607134 | OMIM:612514 | OMIM:615432 MouseDO NCBI chr 9:84,038,715...84,052,615
Ensembl chr 9:84,038,715...84,052,615
JBrowse link
Specific Language Impairment 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tm4sf20 transmembrane 4 L six family member 20 ISO ClinVar Annotator: match by term: Specific language impairment 5
ClinVar Annotator: match by OMIM:615432
OMIM
ClinVar
PMID:19557438 PMID:20848651 PMID:23806086 PMID:23810381 PMID:24088043 More... NCBI chr 9:84,038,715...84,052,615
Ensembl chr 9:84,038,715...84,052,615
JBrowse link
speech-language disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh18 cadherin 18 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:27120335 NCBI chr 2:72,818,076...73,820,144
Ensembl chr 2:73,345,005...73,820,138
JBrowse link
G Foxp2 forkhead box P2 no_association ISO ClinVar Annotator: match by term: Speech-language disorder 1
ClinVar Annotator: match by OMIM:602081
DNA:missense mutation:exon:p.R553H (human)
DNA:missense mutation: :p.P215A (human)
DNA:mutations:5' utr, exon, intron:multiple
DNA:deletions: :multiple
DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human)
OMIM
ClinVar
RGD
PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11072822, RGD:11536000, RGD:11526862, RGD:11526702, RGD:11070093 NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr 6:58,070,035...58,970,165 JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr 6:58,489,060...58,520,322
Ensembl chr 6:58,489,010...58,520,330
JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:27120335 NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      Language Development Disorders 80
        CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
        Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES 1
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
        Intellectual Developmental Disorder with Autism and Speech Delay 1
        Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 1
        Intellectual Developmental Disorder with Seizures and Language Delay 1
        Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 1
        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 1
        LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 1
        LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME 1
        Luscan-Lumish syndrome 1
        Mehes Syndrome 0
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 2
        NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES 1
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES 1
        Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 1
        Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 1
        Snijders Blok-Campeau Syndrome 1
        guanidinoacetate methyltransferase deficiency 2
        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
        specific language impairment + 2
        speech-language disorder-1 5
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        central nervous system disease 10393
          brain disease 9755
            disease of mental health 7049
              developmental disorder of mental health 4382
                specific developmental disorder 3638
                  communication disorder 290
                    language disorder 147
                      Language Development Disorders 80
                        CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
                        Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
                        Intellectual Developmental Disorder with Autism and Speech Delay 1
                        Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 1
                        Intellectual Developmental Disorder with Seizures and Language Delay 1
                        Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 1
                        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 1
                        LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 1
                        LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME 1
                        Luscan-Lumish syndrome 1
                        Mehes Syndrome 0
                        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 2
                        NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES 1
                        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES 1
                        Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 1
                        Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 1
                        Snijders Blok-Campeau Syndrome 1
                        guanidinoacetate methyltransferase deficiency 2
                        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
                        specific language impairment + 2
                        speech-language disorder-1 5
paths to the root