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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 3:176,595,149...176,620,556
Ensembl chr 3:184,765,523...184,790,983
JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr 1:129,937,993...129,983,747 JBrowse link
G AHCTF1 AT-hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar NCBI chr 1:222,469,006...222,563,635
Ensembl chr 1:227,935,557...228,026,795
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 1:26,794,800...26,864,669 JBrowse link
G ANKRD17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr 4:50,939,013...51,124,185
Ensembl chr 4:56,770,798...57,439,365
JBrowse link
G ASF1A anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:116,702,314...116,717,445
Ensembl chr 6:120,843,461...120,858,471
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 chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800
JBrowse link
G CALHM4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:114,337,385...114,369,423
Ensembl chr 6:118,482,269...118,512,046
JBrowse link
G CALHM5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:114,319,599...114,325,898
Ensembl chr 6:118,464,517...118,471,411
JBrowse link
G CALHM6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:114,263,062...114,265,898
Ensembl chr 6:118,409,813...118,411,574
JBrowse link
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
JBrowse link
G CNTNAP2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 PMID:21082657 PMID:21310003 NCBI chr 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:115,290,931...115,358,249
Ensembl chr 6:119,434,847...119,519,282
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21114665 NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
JBrowse link
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:114,173,641...114,246,129 JBrowse link
G ERF ETS2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808
JBrowse link
G FAM162B family with sequence similarity 162 member B ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:114,534,874...114,573,958
Ensembl chr 6:118,704,146...118,717,760
JBrowse link
G FAM184A family with sequence similarity 184 member A ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:116,768,098...116,957,070
Ensembl chr 6:120,908,644...121,026,173
JBrowse link
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Language delay ClinVar NCBI chr2A:47,926,629...48,026,245
Ensembl chr2A:48,830,780...48,886,300
JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
JBrowse link
G FOXP2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893
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 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010
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 chr 6:114,601,360...114,638,286
Ensembl chr 6:118,744,929...118,781,099
JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Speech delay ClinVar NCBI chr16:27,150,159...27,197,006
Ensembl chr16:46,040,439...46,086,840
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23933820 NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25751627 NCBI chr 1:113,187,158...113,256,260
Ensembl chr 1:127,090,829...127,092,328
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 NCBI chr20:45,636,371...45,821,536
Ensembl chr20:46,776,274...46,885,521
JBrowse link
G KMT5B lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Language retardation ClinVar NCBI chr11:63,239,796...63,297,113
Ensembl chr11:66,549,230...66,581,475
JBrowse link
G KPNA5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:114,488,850...114,550,061
Ensembl chr 6:118,641,551...118,684,486
JBrowse link
G MAN1A1 mannosidase alpha class 1A member 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:116,984,842...117,157,623
Ensembl chr 6:121,127,656...121,298,196
JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Language delay ClinVar NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093
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:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854
JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 PMID:28492532 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
JBrowse link
G NRXN1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 NCBI chr2A:50,063,398...51,178,659
Ensembl chr2A:50,985,067...52,091,277
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:115,486,422...115,521,317 JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G RFX6 regulatory factor X6 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:114,686,132...114,741,072
Ensembl chr 6:118,828,973...118,883,884
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053
JBrowse link
G RSPH4A radial spoke head component 4A ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:114,423,322...114,441,199
Ensembl chr 6:118,568,907...118,585,812
JBrowse link
G RWDD1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:114,379,178...114,401,570
Ensembl chr 6:118,524,052...118,546,373
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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SETBP1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217958 NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453
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 chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354
JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284256 PMID:17173049 NCBI chr22:30,951,866...30,973,608 JBrowse link
G SLC35F1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:115,718,178...116,127,742
Ensembl chr 6:120,108,341...120,268,465
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 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:32,999,408...33,033,067
Ensembl chr 6:34,110,652...34,144,490
JBrowse link
G TPO thyroid peroxidase ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055
JBrowse link
G TRAPPC3L trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:114,303,027...114,355,958
Ensembl chr 6:118,449,441...118,498,836
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 chr2B:65,783,512...66,064,618 JBrowse link
G VARS1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 PMID:30275004 NCBI chr 6:31,438,663...31,456,926
Ensembl chr 6:32,325,931...32,343,276
JBrowse link
G VGLL2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:115,073,919...115,082,212
Ensembl chr 6:119,215,683...119,223,541
JBrowse link
G ZUP1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr 6:114,443,844...114,477,220
Ensembl chr 6:118,598,031...118,621,081
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 OMIM NCBI chr11:13,774,530...13,838,195
Ensembl chr11:13,468,756...13,531,716
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 OMIM Ensembl chr19:1,371,312...1,375,461 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 Ensembl chr19:1,357,389...1,369,539 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 OMIM NCBI chr2B:48,709,687...48,719,382 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 OMIM NCBI chr17:57,037,330...57,509,229
Ensembl chr17:62,239,230...62,650,299
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 OMIM NCBI chr11:72,372,577...72,524,817
Ensembl chr11:76,015,998...76,104,197
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 OMIM NCBI chr12:119,406,881...119,436,037
Ensembl chr12:122,777,996...122,804,181
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 OMIM NCBI chr14:30,372,390...30,441,660
Ensembl chr14:48,679,252...48,748,258
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 OMIM NCBI chr19:51,071,167...51,089,289
Ensembl chr19:59,913,040...59,931,108
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 OMIM NCBI chr14:79,795,262...79,898,472 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 OMIM NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
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 OMIM NCBI chr15:31,061,310...31,122,427
Ensembl chr15:49,388,026...49,452,123
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 OMIM NCBI chr16:23,837,540...23,851,376
Ensembl chr16:31,486,098...31,500,185
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 OMIM NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
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 OMIM NCBI chr 5:129,599,606...129,629,312
Ensembl chr 5:135,751,958...135,765,786
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 OMIM NCBI chr2B:83,445,401...83,838,065
Ensembl chr2B:201,351,023...201,584,044
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 9:103,281,915...103,362,786
Ensembl chr 9:131,917,760...131,998,107
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 OMIM NCBI chr 4:149,566,563...149,712,135
Ensembl chr 4:161,380,933...161,524,376
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 OMIM NCBI chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454
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 OMIM NCBI chr19:12,237,882...12,243,903
Ensembl chr19:12,983,106...12,989,193
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 OMIM NCBI chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115
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 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818
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 OMIM NCBI chr2B:114,606,488...114,623,569 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 5:89,870,613...90,970,909
Ensembl chr 5:96,163,304...96,531,116
JBrowse link
G FOXP2 forkhead box P2 no_association ISO DNA:missense mutation: :p.P215A (human) OMIM
RGD
PMID:19352412 RGD:11536000 NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893
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 7:102,647,212...103,536,293 JBrowse link
G LRRN3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr 7:103,072,402...103,106,880
Ensembl chr 7:115,819,307...115,821,433
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 4:105,026,069...105,128,226
Ensembl chr 4:115,590,311...115,686,089
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13863
    Developmental Disease 10397
      Language Development Disorders 82
        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
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  disease 13863
    disease of anatomical entity 13523
      nervous system disease 11201
        central nervous system disease 9811
          brain disease 9218
            disease of mental health 6768
              developmental disorder of mental health 4345
                specific developmental disorder 3619
                  communication disorder 268
                    language disorder 148
                      Language Development Disorders 82
                        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
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