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ONTOLOGY REPORT - ANNOTATIONS


Term:speech disorder
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Accession:DOID:92 term browser browse the term
Definition:Acquired or developmental conditions marked by an impaired ability to comprehend or generate spoken forms of language.
Synonyms:exact_synonym: Aprosodia;   Aprosodias;   Aprosodic Speech;   Cluttering;   Clutterings;   Dysglossia;   Dysglossias;   Dyslalia;   Dyslalias;   Rhinolalia;   Rhinolalias;   Verbal Fluency Disorder;   Verbal Fluency Disorders;   speech disorders
 primary_id: MESH:D013064;   RDO:0001742
 xref: NCI:C5041
For additional species annotation, visit the Alliance of Genome Resources.


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speech disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:11554173
G Mfsd2a major facilitator superfamily domain containing 2A JBrowse link 5 140,642,865 140,657,759 RGD:11554173
G Ttpa alpha tocopherol transfer protein JBrowse link 5 34,007,926 34,029,315 RGD:11554173
AGAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duox1 dual oxidase 1 JBrowse link 3 114,251,794 114,286,827 RGD:8554872
G Duox2 dual oxidase 2 JBrowse link 3 114,218,187 114,237,808 RGD:8554872
G Duoxa1 dual oxidase maturation factor 1 JBrowse link 3 114,241,057 114,251,720 RGD:8554872
G Duoxa2 dual oxidase maturation factor 2 JBrowse link 3 114,236,718 114,240,086 RGD:8554872
G Gatm glycine amidinotransferase JBrowse link 3 114,711,570 114,728,155 RGD:7240710
RGD:8554872
G Shf Src homology 2 domain containing F JBrowse link 3 114,288,021 114,307,334 RGD:8554872
G Slc28a2 solute carrier family 28 member 2 JBrowse link 3 114,355,003 114,647,382 RGD:8554872
G Sord sorbitol dehydrogenase JBrowse link 3 114,176,127 114,207,368 RGD:8554872
G Terb2 telomere repeat binding bouquet formation protein 2 JBrowse link 3 114,129,387 114,147,943 RGD:8554872
aphasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:11554173
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11554173
articulation disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:11529633
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11535989
autosomal dominant mental retardation 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mef2c myocyte enhancer factor 2C JBrowse link 2 11,658,534 11,822,788 RGD:7240710
RGD:8554872
Dysarthria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy5 adenylate cyclase 5 JBrowse link 11 68,695,839 68,842,452 RGD:8554872
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:1580361
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:11554173
G Pde8b phosphodiesterase 8B JBrowse link 2 24,718,548 24,955,533 RGD:11554173
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 14 60,657,730 60,687,950 RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Familial Persistent Stuttering 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 3 119,484,714 119,548,491 RGD:7240710
RGD:8554872
Familial Persistent Stuttering 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase JBrowse link 10 10,573,191 10,581,516 RGD:8554872
Fitzsimmons-Guilbert Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
Focal Epilepsy with Speech Disorder and with or without Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:7240710
RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
G Itsn2 intersectin 2 JBrowse link 6 30,098,378 30,208,694 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
mutism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:13450911
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp142 zinc finger protein 142 JBrowse link 9 81,844,138 81,868,086 RGD:7240710
RGD:8554872
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csnk2a1 casein kinase 2 alpha 1 JBrowse link 3 147,713,808 147,760,375 RGD:8554872
RGD:7240710
Popov-Chang Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta JBrowse link 7 75,573,553 75,598,295 RGD:8554872
Primary Progressive Aphasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grn granulin precursor JBrowse link 10 90,377,103 90,383,207 RGD:8554872
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:8554872
Primary Progressive Nonfluent Aphasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbk1 TANK-binding kinase 1 JBrowse link 7 63,655,247 63,687,978 RGD:8554872
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srpx2 sushi-repeat-containing protein, X-linked 2 JBrowse link X 104,734,035 104,760,658 RGD:7240710
RGD:8554872
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694285
RGD:8694282
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 4 124,238,167 124,584,176 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:11554173
speech-language disorder-1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh18 cadherin 18 JBrowse link 2 73,651,408 74,693,342 RGD:8554872
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:7240710
RGD:8554872
RGD:11072822
RGD:11536000
RGD:11526862
RGD:11526702
RGD:11070093
G Immp2l inner mitochondrial membrane peptidase subunit 2 JBrowse link 6 60,958,351 61,859,457 RGD:8554872
G Lrrn3 leucine rich repeat neuronal 3 JBrowse link 6 61,374,328 61,405,195 RGD:8554872
G Zgrf1 zinc finger, GRF-type containing 1 JBrowse link 2 231,881,893 231,944,760 RGD:8554872
stuttering term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 3 119,484,714 119,548,491 RGD:13592920
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:11554173
Worster Drought Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 JBrowse link 15 109,338,762 109,394,905 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Neurodevelopmental Disorders 4071
        communication disorder 212
          speech disorder 49
            AGAT deficiency 9
            Atonic-Astatic Syndrome of Foerster 0
            Focal Epilepsy with Speech Disorder and with or without Mental Retardation 4
            Maxillofacial Dysostosis 0
            Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
            Non-Lissencephalic Cortical Dysplasia 0
            OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 1
            Opticocochleodentate Degeneration 0
            Popov-Chang Syndrome 1
            Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
            Speech Disturbance - Use of Faulty Phrasing and Unrelated Words 0
            aphasia + 5
            articulation disorder + 20
            autosomal dominant mental retardation 20 1
            chromosome 17p13.1 deletion syndrome 0
            echolalia 0
            mutism 1
            speech-language disorder-1 5
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          brain disease 7571
            disease of mental health 5520
              developmental disorder of mental health 2712
                specific developmental disorder 1884
                  communication disorder 212
                    language disorder 136
                      speech disorder 49
                        AGAT deficiency 9
                        Atonic-Astatic Syndrome of Foerster 0
                        Focal Epilepsy with Speech Disorder and with or without Mental Retardation 4
                        Maxillofacial Dysostosis 0
                        Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
                        Non-Lissencephalic Cortical Dysplasia 0
                        OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 1
                        Opticocochleodentate Degeneration 0
                        Popov-Chang Syndrome 1
                        Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
                        Speech Disturbance - Use of Faulty Phrasing and Unrelated Words 0
                        aphasia + 5
                        articulation disorder + 20
                        autosomal dominant mental retardation 20 1
                        chromosome 17p13.1 deletion syndrome 0
                        echolalia 0
                        mutism 1
                        speech-language disorder-1 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.