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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


show annotations for term's descendants           Sort by:
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 chr 8:58,676,327...58,685,012
Ensembl chr 8:49,779,862...49,788,024 		JBrowse link
G Ankrd17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr14:18,007,342...18,145,980
Ensembl chr14:17,721,932...17,862,617 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Language retardation ClinVar PMID:25741868 NCBI chr18:13,868,223...14,040,867
Ensembl chr18:13,593,985...13,762,427 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr14:102,230,147...102,325,289
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Expressive language delay ClinVar NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 PMID:21082657 PMID:21310003 NCBI chr 4:75,109,358...77,366,258
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21114665 NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Drd2 dopamine receptor D2 ISO DNA:SNP,haplotype::rs6278(human) RGD PMID:23691092 RGD:401959324 NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875 		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 chr 1:201,426,446...201,544,444
Ensembl chr 1:191,996,730...192,114,359 		JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:80,829,935...80,838,388 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:43,133,912...43,711,683 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:166,075,629...166,142,124 		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 3:28,501,836...28,528,754
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23933820 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25751627 NCBI chr 2:197,392,746...197,406,606
Ensembl chr 2:194,704,639...194,718,400 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Language retardation ClinVar NCBI chr 1:210,429,672...210,479,042
Ensembl chr 1:201,000,444...201,049,819 		JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 NCBI chr 6:8,931,360...10,077,381
Ensembl chr 6:3,177,897...4,322,710 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217958 NCBI chr18:74,465,616...74,827,455
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284256 PMID:17173049 NCBI chr 7:122,448,323...122,518,623
Ensembl chr 7:120,570,402...120,630,374 		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 chr 1:177,078,973...177,140,363
Ensembl chr 1:167,644,677...167,705,730 		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 2:172,447,738...172,609,591
Ensembl chr 2:170,149,694...170,309,941 		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 4:148,077,799...148,088,427
Ensembl chr 4:146,522,176...146,532,785 		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
ISS		 ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT DEFICIENCY | ClinVar Annotator: match by term: GAMT-related condition
OMIM:612736
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr 7:10,099,267...10,102,083
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: GAMT DEFICIENCY ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chr 7:10,103,226...10,110,862
Ensembl chr 7:9,450,392...9,460,195 		JBrowse link
Intellectual Developmental Disorder with Autism and Speech Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: AUTS5 | ClinVar 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 chr 3:66,758,805...66,769,626
Ensembl chr 3:46,351,213...46,361,041 		JBrowse link
intellectual developmental disorder with autistic features and language delay, with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY 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 chr10:91,052,860...91,373,291
Ensembl chr10:90,553,002...90,868,756 		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 chr19:40,004,271...40,024,565
Ensembl chr19:23,099,401...23,119,596 		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 chr 3:62,098,739...62,115,926
Ensembl chr 3:41,689,851...41,697,877 		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 3:32,889,856...32,949,032
Ensembl chr 3:12,492,639...12,545,890 		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 chr 1:161,522,399...161,637,623
Ensembl chr 1:152,111,188...152,226,383 		JBrowse link
Intellectual Developmental Disorder with Seizures and Language Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd1b SET domain containing 1B, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay | ClinVar Annotator: match by term: 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 chr12:39,056,809...39,082,399
Ensembl chr12:33,396,120...33,426,934 		JBrowse link
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 6:93,512,981...93,552,809
Ensembl chr 6:87,777,183...87,804,187 		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 chr 6:93,527,690...93,571,863
Ensembl chr 6:87,791,656...87,835,841 		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 chr 1:74,471,284...74,487,527
Ensembl chr 1:65,555,924...65,572,167 		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 chr 1:74,467,343...74,472,275
Ensembl chr 1:65,551,983...65,556,915 		JBrowse link
G Mboat7 membrane bound O-acyltransferase domain containing 7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:25741868 NCBI chr 1:74,440,618...74,454,896
Ensembl chr 1:65,525,213...65,539,538 		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 chr 1:74,491,247...74,502,922
Ensembl chr 1:65,575,887...65,587,873 		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 chr 1:74,455,135...74,467,043
Ensembl chr 1:65,539,721...65,551,677 		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 chr 6:132,598,968...132,692,123
Ensembl chr 6:126,834,531...126,928,224 		JBrowse link
intellectual disability-severe speech delay-mild dysmorphism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: 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 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia OMIM
ClinVar		 PMID:25741868 PMID:27523599 PMID:27677260 PMID:29368331 PMID:30631341 More... NCBI chr 8:84,956,629...84,985,576
Ensembl chr 8:76,073,306...76,105,069 		JBrowse link
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat8 lysine acetyltransferase 8 ISO ClinVar Annotator: match by term: Li-Ghorbani-Weisz-Hubshman syndrome OMIM
ClinVar		 PMID:25741868 PMID:31794431 NCBI chr 1:191,954,827...191,967,107
Ensembl chr 1:182,515,327...182,536,633 		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 8:119,338,014...119,406,632
Ensembl chr 8:110,459,383...110,505,252 		JBrowse link
G Klhl18 kelch-like family member 18 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 8:119,279,081...119,337,850
Ensembl chr 8:110,400,681...110,459,323 		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 8:119,239,213...119,261,675
Ensembl chr 8:110,360,804...110,383,271 		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 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489 		JBrowse link
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2ca protein phosphatase 2 catalytic subunit alpha ISO ClinVar Annotator: match by term: 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 chr10:36,856,534...36,878,789
Ensembl chr10:36,358,101...36,377,862 		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 chr 1:95,104,448...95,106,268
Ensembl chr 1:85,977,025...85,978,868 		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 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 chr 8:54,132,799...54,174,921
Ensembl chr 8:45,236,026...45,278,038 		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 7:110,244,634...110,258,071
Ensembl chr 7:108,364,381...108,380,021 		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 LOC120096085 U4 spliceosomal RNA ISO ClinVar Annotator: match by term: ReNU SYNDROME ClinVar PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538 NCBI chr12:46,786,790...46,786,930
Ensembl chr12:41,126,050...41,126,190 		JBrowse link
G Rnu4-2 RNA, U4 small nuclear 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | ClinVar Annotator: match by term: ReNU SYNDROME OMIM
ClinVar		 PMID:25741868 PMID:38645094 PMID:38821540 PMID:38859706 PMID:38991538 NCBI chr 5:124,264,229...124,264,369
Ensembl chr 5:124,264,229...124,264,369 		JBrowse link
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 chr12:46,785,852...46,800,179
Ensembl chr12:41,131,262...41,139,439 		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 chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		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 chr 4:153,431,169...154,051,932
Ensembl chr 4:151,764,138...152,379,648 		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 chr 9:63,621,193...63,921,999
Ensembl chr 9:56,126,747...56,427,508 		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 chr 9:62,853,904...63,247,472
Ensembl chr 9:55,365,203...55,580,327 		JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 3:32,889,856...32,949,032
Ensembl chr 3:12,492,639...12,545,890 		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 chr11:42,517,527...42,866,280
Ensembl chr11:29,031,348...29,159,901 		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 chr20:1,469,779...1,499,352
Ensembl chr20:1,464,534...1,493,994 		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 2:168,247,490...168,367,616
Ensembl chr 2:165,947,521...166,069,510 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: 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 chr18:60,259,506...60,275,782
Ensembl chr18:57,989,308...58,005,622 		JBrowse link
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: DHPS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment OMIM
ClinVar		 PMID:25741868 PMID:30661771 NCBI chr19:39,987,328...39,991,418
Ensembl chr19:23,082,448...23,086,881 		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 chr19:39,981,890...39,987,443
Ensembl chr19:23,077,010...23,082,563 		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 chr19:39,980,247...39,981,619
Ensembl chr19:23,075,376...23,076,894 		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 chr 7:113,716,266...113,827,670
Ensembl chr 7:111,836,012...111,944,688 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cct3 chaperonin containing TCP1 subunit 3 ISO OMIM NCBI chr 2:176,063,529...176,088,180
Ensembl chr 2:173,765,698...173,790,757 		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 chr10:54,562,437...54,588,842
Ensembl chr10:54,063,629...54,090,047 		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 chr10:54,588,304...54,617,715
Ensembl chr10:54,117,163...54,119,494 		JBrowse link
G Scarna21 small Cajal body-specific RNA 21 ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr10:54,569,767...54,569,906
Ensembl chr10:54,070,959...54,071,098 		JBrowse link
specific language impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 susceptibility ISO DNA:SNPs: :(human) RGD PMID:18987363 RGD:13450918 NCBI chr 4:75,109,358...77,366,258
Ensembl chr 4:74,109,472...76,362,027 		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 chr 9:91,486,847...91,500,745
Ensembl chr 9:84,038,715...84,052,615 		JBrowse link
speech-language disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh18 cadherin 18 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 2:74,548,681...75,550,720
Ensembl chr 2:73,345,005...73,820,138 		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:exon:p.R553H (human)
DNA:missense mutation: :p.P215A (human)
DNA:mutations:5' utr, exon, intron:multiple
DNA:deletions: :multiple
DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human)		 OMIM
ClinVar
RGD		 PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11072822, RGD:11536000, RGD:11526862, RGD:11526702, RGD:11070093 NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:43,133,912...43,711,683 		JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 6:63,797,189...64,696,906
Ensembl chr 6:58,070,283...58,969,840 		JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 6:64,216,164...64,247,293
Ensembl chr 6:58,489,010...58,520,330 		JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 2:218,687,413...218,750,104
Ensembl chr 2:216,013,005...216,074,750 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14666
      Language Development Disorders 74
        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 2
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE 3
        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 WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION 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 3
        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 19139
    disease of anatomical entity 18452
      nervous system disease 14361
        central nervous system disease 12635
          brain disease 11856
            disease of mental health 8459
              developmental disorder of mental health 5651
                specific developmental disorder 4613
                  communication disorder 420
                    language disorder 171
                      Language Development Disorders 74
                        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 2
                        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE 3
                        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 WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION 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 3
                        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