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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 3:32,708,546...32,726,973
Ensembl chr 3:32,706,298...32,726,973
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr 3:89,714,469...89,753,455
Ensembl chr 3:89,715,022...89,753,446
JBrowse link
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar NCBI chr 1:179,744,904...179,804,015
Ensembl chr 1:179,744,894...179,803,680
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 4:133,011,265...133,078,110
Ensembl chr 4:133,011,260...133,078,110
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:53,596,961...53,609,225
Ensembl chr10:53,596,757...53,609,225
JBrowse link
G Bcl11a B cell CLL/lymphoma 11A (zinc finger protein) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Language delay
CTD
ClinVar
PMID:25741868 PMID:27120335 NCBI chr11:24,076,564...24,173,558
Ensembl chr11:24,078,056...24,174,123
JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:34,038,784...34,044,313
Ensembl chr10:34,038,784...34,044,310
JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:34,091,352...34,096,519
Ensembl chr10:34,087,815...34,096,519
JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:34,126,067...34,127,972
Ensembl chr10:34,126,067...34,127,984
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:53,273,441...53,379,883
Ensembl chr10:53,273,443...53,379,947
JBrowse link
G Cntnap2 contactin associated protein-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 PMID:21082657 PMID:21310003 NCBI chr 6:45,060,061...47,301,393
Ensembl chr 6:45,059,357...47,304,213
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:52,233,578...52,321,378
Ensembl chr10:52,233,619...52,321,378
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21114665 NCBI chr 3:118,562,109...119,432,924
Ensembl chr 3:118,562,129...119,432,924
JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:34,151,389...34,208,282
Ensembl chr10:34,151,393...34,207,715
JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr 7:25,242,560...25,251,104
Ensembl chr 7:25,242,561...25,250,761
JBrowse link
G Fam162b family with sequence similarity 162, member B ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:51,585,414...51,590,592
Ensembl chr10:51,585,416...51,590,517
JBrowse link
G Fam184a family with sequence similarity 184, member A ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:53,633,035...53,751,277
Ensembl chr10:53,633,145...53,751,123
JBrowse link
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Language delay ClinVar NCBI chr17:87,990,859...88,066,045
Ensembl chr17:87,990,859...88,065,291
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr 6:98,925,342...99,522,746
Ensembl chr 6:98,925,338...99,522,721
JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr 6:14,901,349...15,441,977
Ensembl chr 6:14,901,349...15,441,977
JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), 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 4:155,491,300...155,559,269
Ensembl chr 4:155,491,361...155,559,269
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:52,337,024...52,382,124
Ensembl chr10:52,335,850...52,382,124
JBrowse link
G Gprc6a G protein-coupled receptor, family C, group 6, member A ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:51,614,823...51,631,458
Ensembl chr10:51,614,823...51,631,461
JBrowse link
G Gpt2 glutamic pyruvate transaminase (alanine aminotransferase) 2 ISO ClinVar Annotator: match by term: Speech delay ClinVar NCBI chr 8:85,492,576...85,528,902
Ensembl chr 8:85,492,576...85,527,560
JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23933820 NCBI chr16:9,567,901...9,996,083
Ensembl chr16:9,567,898...9,995,560
JBrowse link
G Kcna2 potassium voltage-gated channel, shaker-related subfamily, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25751627 NCBI chr 3:107,090,883...107,115,005
Ensembl chr 3:107,101,146...107,115,005
JBrowse link
G Kcnb1 potassium voltage gated channel, Shab-related subfamily, member 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 NCBI chr 2:167,095,969...167,190,072
Ensembl chr 2:167,095,969...167,190,155
JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Language retardation ClinVar NCBI chr19:3,767,362...3,818,303
Ensembl chr19:3,767,421...3,818,303
JBrowse link
G Man1a mannosidase 1, alpha ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:53,904,785...54,076,616
Ensembl chr10:53,904,785...54,076,609
JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:53,536,315...53,630,006
Ensembl chr10:53,536,315...53,630,439
JBrowse link
G Mcoln1 mucolipin 1 ISO ClinVar Annotator: match by term: Language delay ClinVar NCBI chr 8:3,500,519...3,515,232
Ensembl chr 8:3,500,457...3,515,232
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:74,026,592...74,085,690
Ensembl chr  X:74,026,592...74,135,363
JBrowse link
G Med13l mediator complex subunit 13-like ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr 5:118,560,330...118,765,438
Ensembl chr 5:118,560,679...118,765,438
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Nrxn1 neurexin I ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 NCBI chr17:90,033,644...91,093,159
Ensembl chr17:90,033,631...91,093,071
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:52,417,547...52,440,192
Ensembl chr10:52,417,547...52,440,183
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:53,337,686...53,345,999
Ensembl chr10:53,337,667...53,345,987
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:51,677,760...51,730,429
Ensembl chr10:51,677,756...51,730,432
JBrowse link
G Ros1 Ros1 proto-oncogene ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:52,044,863...52,195,398
Ensembl chr10:52,045,721...52,195,244
JBrowse link
G Rsph4a radial spoke head 4 homolog A (Chlamydomonas) ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:33,905,111...33,916,021
Ensembl chr10:33,905,111...33,916,021
JBrowse link
G Rwdd1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:33,996,555...34,019,616
Ensembl chr10:33,996,555...34,019,624
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:17561957 PMID:25741868 PMID:26096185 PMID:28492532 NCBI chr 2:66,270,781...66,440,837
Ensembl chr 2:66,270,778...66,440,840
JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217958 NCBI chr18:78,750,378...79,110,444
Ensembl chr18:78,750,380...79,109,391
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 chr18:61,952,928...62,015,719
Ensembl chr18:61,953,075...62,024,402
JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284256 PMID:17173049 NCBI chr15:89,493,013...89,560,261
Ensembl chr15:89,499,623...89,560,261
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:52,690,501...53,111,622
Ensembl chr10:52,690,533...53,111,622
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 2:32,787,607...32,847,237
Ensembl chr 2:32,787,602...32,847,245
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 homolog (rat) ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 PMID:28492532 NCBI chr17:26,941,212...26,972,434
Ensembl chr17:26,941,253...26,972,434
JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 NCBI chr12:30,054,659...30,132,984
Ensembl chr12:30,054,659...30,132,624
JBrowse link
G Trappc3l trafficking protein particle complex 3 like ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:34,037,597...34,109,815
Ensembl chr10:34,037,597...34,109,815
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 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
G Vars valyl-tRNA synthetase ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 PMID:30275004 NCBI chr17:35,000,907...35,016,329
Ensembl chr17:35,000,987...35,016,322
JBrowse link
G Vgll2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:52,022,502...52,028,471
Ensembl chr10:52,022,502...52,028,471
JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr10:33,919,142...33,951,294
Ensembl chr10:33,919,142...33,951,269
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 7:113,513,719...113,571,506
Ensembl chr 7:113,513,834...113,571,511
JBrowse link
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gamt guanidinoacetate methyltransferase ISO
IEA
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
OMIM:612736
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612736
OMIM
ClinVar
MouseDO
CTD
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr10:80,258,151...80,261,025
Ensembl chr10:80,258,151...80,261,012
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 chr10:80,249,105...80,256,794
Ensembl chr10:80,249,121...80,256,794
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 2:61,802,863...61,814,114
Ensembl chr 2:61,802,930...61,814,114
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 chr11:105,589,460...105,929,304
Ensembl chr11:105,589,986...105,929,304
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 7:97,788,541...97,912,381
Ensembl chr 7:97,788,541...97,912,381
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 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 chr 5:123,142,040...123,168,630
Ensembl chr 5:123,142,193...123,168,629
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 chr12:69,311,541...69,357,201
Ensembl chr12:69,310,522...69,357,165
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 7:3,645,247...3,661,109
Ensembl chr 7:3,645,268...3,661,109
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 B cell leukemia/lymphoma 11B 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 chr12:107,910,403...108,004,145
Ensembl chr12:107,910,403...108,003,602
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 6:98,925,342...99,522,746
Ensembl chr 6:98,925,338...99,522,721
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 guanine nucleotide binding protein (G protein), 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 9:75,306,288...75,345,923
Ensembl chr 9:75,306,288...75,345,876
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 K(lysine) acetyltransferase 8 ISO ClinVar Annotator: match by term: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME ClinVar
OMIM
PMID:31794431 NCBI chr 7:127,912,517...127,925,838
Ensembl chr 7:127,912,516...127,925,837
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 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 9:110,532,500...110,618,633
Ensembl chr 9:110,532,597...110,618,633
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 (formerly 2A), catalytic subunit, alpha isoform 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 chr11:52,098,824...52,122,749
Ensembl chr11:52,098,681...52,127,778
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 1:53,806,872...54,195,034
Ensembl chr 1:53,806,876...54,195,168
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 2:29,194,726...29,248,099
Ensembl chr 2:29,194,541...29,253,005
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 receptor, ionotropic, AMPA2 (alpha 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 3:80,681,450...80,804,227
Ensembl chr 3:80,681,450...80,802,835
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 Nars asparaginyl-tRNA synthetase ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES OMIM
ClinVar
PMID:25741868 PMID:32738225 NCBI chr18:64,499,655...64,516,515
Ensembl chr18:64,499,647...64,516,652
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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 chr 8:85,071,486...85,075,162
Ensembl chr 8:85,071,757...85,075,162
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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 chr11:69,343,273...69,369,499
Ensembl chr11:69,343,273...69,369,406
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-like 2 susceptibility ISO DNA:SNPs: :(human) RGD PMID:18987363 RGD:13450918 NCBI chr 6:45,060,061...47,301,393
Ensembl chr 6:45,059,357...47,304,213
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G Tm4sf20 transmembrane 4 L six family member 20 ISS OMIM:606711 | OMIM:606712 | OMIM:607134 | OMIM:612514 | OMIM:615432 MouseDO NCBI chr 1:82,756,647...82,768,461
Ensembl chr 1:82,756,649...82,768,461
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 1:82,756,647...82,768,461
Ensembl chr 1:82,756,649...82,768,461
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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 chr15:22,548,898...23,477,491
Ensembl chr15:22,549,022...23,474,418
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 6:14,901,349...15,441,977
Ensembl chr 6:14,901,349...15,441,977
JBrowse link
G Immp2l IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr12:41,024,061...41,955,588
Ensembl chr12:41,024,090...41,955,588
JBrowse link
G Lrrn3 leucine rich repeat protein 3, neuronal ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr12:41,451,668...41,486,057
Ensembl chr12:41,451,668...41,486,431
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 3:127,553,396...127,618,023
Ensembl chr 3:127,553,489...127,618,023
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14522
    Developmental Disease 10795
      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 14522
    disease of anatomical entity 14120
      nervous system disease 11622
        central nervous system disease 10139
          brain disease 9523
            disease of mental health 6979
              developmental disorder of mental health 4449
                specific developmental disorder 3670
                  communication disorder 271
                    language disorder 148
                      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