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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;   Language Delay;   Language Delays;   Language Development Disorder;   Semantic Pragmatic Disorder;   Semantic-Pragmatic Disorders;   Speech Delay;   developmental language disorders;   speech delays
 narrow_synonym: EXPRESSIVE LANGUAGE DELAY;   LANGUAGE RETARDATION
 primary_id: MESH:D007805



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Language Development Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKK1 ankyrin repeat and kinase domain containing 1 ISO DNA:SNPs,haplotype::rs11604671, rs2734849,rs1800497(human) RGD PMID:23691092 RGD:401959324 NCBI chr11:108,267,717...108,280,635
Ensembl chr11:112,111,003...112,123,382
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 ASXL3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Language retardation ClinVar PMID:25741868 NCBI chr18:26,781,382...26,953,935
Ensembl chr18:30,403,018...30,541,651
JBrowse link
G BCL11A BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Expressive language delay ClinVar NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
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 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 DRD2 dopamine receptor D2 ISO DNA:SNP,haplotype::rs6278(human) RGD PMID:23691092 RGD:401959324 NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
JBrowse link
G EBF3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 NCBI chr10:126,432,326...126,561,328 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 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 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
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 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 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 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 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 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
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 PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related condition | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33239752 NCBI chr11:13,774,530...13,838,195
Ensembl chr11:13,468,756...13,531,716
JBrowse link
developmental delay, hypotonia, and impaired language term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition OMIM
ClinVar
PMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:35395208 NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
JBrowse link
Developmental Delay, Language Impairment, and Ocular Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities OMIM
ClinVar
PMID:25741868 PMID:35047857 NCBI chr 3:9,744,055...9,758,627
Ensembl chr 3:9,981,934...9,996,250
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 | ClinVar Annotator: match by term: GAMT-related condition OMIM
ClinVar
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... 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:11978605 PMID:12468279 PMID:20301745 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 ClinVar Annotator: match by term: AUTS5 | ClinVar Annotator: match by term: Autism, susceptibility to, 5 | ClinVar Annotator: match by term: TBR1-related condition OMIM
ClinVar
PMID:11353400 PMID:25232744 PMID:25741868 PMID:28492532 PMID:30250039 More... 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 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES | 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 Annotator: match by term: TANC2-related condition OMIM
ClinVar
PMID:23033978 PMID:25741868 PMID:28492532 PMID:28754924 PMID:30021165 More... NCBI chr17:57,037,330...57,509,229
Ensembl chr17:62,239,230...62,650,299
JBrowse link
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNPO2 transportin 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition OMIM
ClinVar
PMID:25741868 PMID:34314705 NCBI chr19:12,261,026...12,286,571
Ensembl chr19:13,006,110...13,032,317
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR4A2 nuclear receptor subfamily 4 group A member 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | ClinVar Annotator: match by term: NR4A2-related condition OMIM
ClinVar
PMID:23066323 PMID:25741868 PMID:28492532 PMID:29758562 PMID:29770430 More... NCBI chr2B:43,584,835...43,593,118
Ensembl chr2B:160,826,091...160,837,162
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 NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay ClinVar PMID:25741868 NCBI chr 9:103,281,915...103,362,786
Ensembl chr 9:131,917,760...131,998,107
JBrowse link
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: PAK1-related condition | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders OMIM
ClinVar
PMID:10975528 PMID:25741868 PMID:28492532 PMID:30290153 PMID:31504246 More... 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 ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay | ClinVar Annotator: match by term: SETD1B-associated disorder | ClinVar Annotator: match by term: SETD1B-related condition OMIM
ClinVar
PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 More... 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 KLHDC2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy | ClinVar Annotator: match by term: NEMF-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr14:30,356,506...30,372,018
Ensembl chr14:48,668,025...48,679,105
JBrowse link
G NEMF nuclear export mediator factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy | ClinVar Annotator: match by term: NEMF-related condition OMIM
ClinVar
PMID:25741868 PMID:27431290 PMID:28492532 PMID:32934225 PMID:33004807 More... 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 ClinVar Annotator: match by term: CNOT3-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29758562 PMID:31201375 PMID:32720325 More... NCBI chr19:51,071,167...51,089,289
Ensembl chr19:59,913,040...59,931,108
JBrowse link
G LENG1 leukocyte receptor cluster member 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:25741868 PMID:29758562 NCBI chr19:51,089,247...51,093,572
Ensembl chr19:59,931,039...59,935,332
JBrowse link
G MBOAT7 membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:25741868 NCBI chr19:51,107,197...51,121,968
Ensembl chr19:59,949,428...59,963,312
JBrowse link
G PRPF31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:25741868 NCBI chr19:51,048,133...51,064,394
Ensembl chr19:59,891,070...59,907,159
JBrowse link
G TMC4 transmembrane channel like 4 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:25741868 NCBI chr19:51,093,724...51,107,084
Ensembl chr19:59,935,416...59,949,266
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 BCL11 transcription factor B ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities OMIM
ClinVar
PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 PMID:32659295 More... 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 ClinVar Annotator: match by term: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment AND with or without autistic features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome OMIM
ClinVar
PMID:9536098 PMID:17405132 PMID:17576681 PMID:19352412 PMID:20848658 More... 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 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:29368331 PMID:30631341 More... 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 ClinVar Annotator: match by term: Li-Ghorbani-Weisz-Hubshman syndrome OMIM
ClinVar
PMID:25741868 PMID:31794431 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 KIF9 kinesin family member 9 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,130,047...47,183,636
Ensembl chr 3:48,229,703...48,283,002
JBrowse link
G KLHL18 kelch like family member 18 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,183,587...47,247,574
Ensembl chr 3:48,282,935...48,346,165
JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,280,706...47,314,268
Ensembl chr 3:48,379,810...48,413,488
JBrowse link
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 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 More... 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 ClinVar Annotator: match by term: Houge-Janssens syndrome 3 | ClinVar Annotator: match by term: PPP2CA-related condition OMIM
ClinVar
PMID:25741868 PMID:28333917 PMID:28492532 PMID:29051493 PMID:30595372 NCBI chr 5:129,599,606...129,629,312
Ensembl chr 5:135,751,958...135,765,786
JBrowse link
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:36044892 NCBI chr19:32,492,030...32,493,944
Ensembl chr19:41,229,033...41,230,960
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0408 KIAA0408 ortholog ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar PMID:25741868 NCBI chr 6:125,228,765...125,263,582
Ensembl chr 6:129,346,738...129,378,332
JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay | ClinVar Annotator: match by term: UBE4A-related condition OMIM
ClinVar
PMID:25741868 PMID:27431290 PMID:33420346 NCBI chr11:113,193,986...113,233,660
Ensembl chr11:117,131,100...117,162,385
JBrowse link
G ZFTRAF1 zinc finger TRAF-type containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar NCBI chr 8:141,217,179...141,229,953
Ensembl chr 8:144,205,966...144,221,599
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIRT4 sirtuin 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | ClinVar Annotator: match by term: ReNU SYNDROME ClinVar PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538 NCBI chr12:117,867,453...117,887,968
Ensembl chr12:121,241,112...121,261,777
JBrowse link
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ClinVar NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures OMIM
ClinVar
PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
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 ANKRD44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr2B:84,230,570...84,554,326
Ensembl chr2B:202,128,829...202,331,534
JBrowse link
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar
PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... 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 delay and seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIAM1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures | ClinVar Annotator: match by term: TIAM1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:35240055 NCBI chr21:17,483,273...17,925,301
Ensembl chr21:30,868,308...31,016,883
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and variable cognitive abnormalities ClinVar
OMIM
PMID:25741868 PMID:36103875 NCBI chr 6:29,405,026...29,437,108
Ensembl chr 6:30,065,119...30,095,304
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 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31300657 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 ClinVar Annotator: match by term: NARS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32738225 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 ClinVar Annotator: match by term: DHPS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment OMIM
ClinVar
PMID:25741868 PMID:30661771 NCBI chr19:12,237,882...12,243,903
Ensembl chr19:12,983,106...12,989,193
JBrowse link
G WDR83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment ClinVar PMID:25741868 PMID:30250217 NCBI chr19:12,231,876...12,237,997
Ensembl chr19:12,976,952...12,983,221
JBrowse link
G WDR83OS WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment ClinVar PMID:25741868 PMID:30250217 NCBI chr19:12,230,204...12,231,881
Ensembl chr19:12,975,314...12,976,896
JBrowse link
Neurodevelopmental Disorder with Speech Impairment and with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1I calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: CACNA1I-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and with or without seizures OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33704440 NCBI chr22:20,463,511...20,595,253
Ensembl chr22:38,296,436...38,414,963
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: CHD3-related disorder | ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome OMIM
ClinVar
PMID:22495309 PMID:25363768 PMID:25741868 PMID:28135719 PMID:28191890 More... NCBI chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115
JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr17:7,891,617...7,921,183
Ensembl chr17:7,878,102...7,887,932
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 ClinVar Annotator: match by term: Specific language impairment 5 | ClinVar Annotator: match by term: TM4SF20-related condition OMIM
ClinVar
PMID:19557438 PMID:20848651 PMID:23806086 PMID:23810381 PMID:24088043 More... 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: Childhood apraxia of speech 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 ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition | ClinVar Annotator: match by term: Speech-language disorder 1
DNA:missense mutation: :p.P215A (human)
OMIM
ClinVar
RGD
PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... 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: Childhood apraxia of speech 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: Childhood apraxia of speech 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: Childhood apraxia of speech 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 15834
    Developmental Disease 13856
      Language Development Disorders 71
        CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
        Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
        Developmental Delay, Language Impairment, and Ocular Abnormalities 1
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM 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 2
        Intellectual Developmental Disorder with Seizures and Language Delay 1
        Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 2
        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 5
        LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 1
        LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME 1
        Luscan-Lumish Syndrome 4
        Mehes Syndrome 0
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY 3
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE 1
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 3
        NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES 1
        NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES 1
        Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 1
        Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly 1
        Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities 1
        Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 3
        Neurodevelopmental Disorder with Speech Impairment and with or without Seizures 1
        Snijders Blok-Campeau Syndrome 2
        developmental delay, hypotonia, and impaired language 1
        guanidinoacetate methyltransferase deficiency 2
        intellectual developmental disorder with autistic features and language delay, with or without seizures 1
        intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 1
        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
        neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 2
        neurodevelopmental disorder with language delay and seizures 1
        specific language impairment + 2
        speech-language disorder-1 5
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      nervous system disease 13586
        central nervous system disease 12151
          brain disease 11416
            disease of mental health 8256
              developmental disorder of mental health 5651
                specific developmental disorder 4617
                  communication disorder 396
                    language disorder 169
                      Language Development Disorders 71
                        CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
                        Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
                        Developmental Delay, Language Impairment, and Ocular Abnormalities 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM 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 2
                        Intellectual Developmental Disorder with Seizures and Language Delay 1
                        Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 2
                        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 5
                        LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 1
                        LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME 1
                        Luscan-Lumish Syndrome 4
                        Mehes Syndrome 0
                        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY 3
                        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE 1
                        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 3
                        NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES 1
                        NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES 1
                        Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 1
                        Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly 1
                        Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities 1
                        Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 3
                        Neurodevelopmental Disorder with Speech Impairment and with or without Seizures 1
                        Snijders Blok-Campeau Syndrome 2
                        developmental delay, hypotonia, and impaired language 1
                        guanidinoacetate methyltransferase deficiency 2
                        intellectual developmental disorder with autistic features and language delay, with or without seizures 1
                        intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 1
                        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
                        neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 2
                        neurodevelopmental disorder with language delay and seizures 1
                        specific language impairment + 2
                        speech-language disorder-1 5
paths to the root