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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Involuntary vocalization
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Accession:HP:4000074 term browser browse the term
Definition:Production of sound done without will or conscious control. Involuntary vocalizations include tics, stereotypies vocalizations as part of dystonia or chorea, continuous vocalizing behaviors such as groaning or grunting, pathological laughter and crying, and others. These vocalizations are not recognized as socially or culturally appropriate.


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Echolalia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO ORPHA:2995 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO ORPHA:2995 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO ORPHA:1901 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO ORPHA:1901 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO MIM:615873 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO ORPHA:2780 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO ORPHA:93952 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO MIM:615032 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP HPO ORPHA:275864 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO ORPHA:3255 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:1899 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO ORPHA:1899 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase IAGP HPO MIM:619132 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:96147 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2396 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLCN folliculin IAGP HPO MIM:610883 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP HPO MIM:619580 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G GRN granulin precursor IAGP HPO ORPHA:275864 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HDC histidine decarboxylase IAGP HPO MIM:137580 NCBI chr15:50,241,947...50,265,726
Ensembl chr15:50,241,947...50,265,965 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO MIM:615516 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO MIM:117360 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G KDM5A lysine demethylase 5A IAGP HPO MIM:620820 NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2396 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:172700 ORPHA:275864 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G NAGS N-acetylglutamate synthase IAGP HPO ORPHA:927 NCBI chr17:44,004,622...44,009,068
Ensembl chr17:44,004,622...44,009,068 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G PDZD8 PDZ domain containing 8 IAGP HPO MIM:620021 NCBI chr10:117,277,274...117,375,440
Ensembl chr10:117,277,274...117,375,440 		JBrowse link
G PLEC plectin IAGP HPO ORPHA:257 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PSEN1 presenilin 1 IAGP HPO MIM:172700 ORPHA:275864 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:1713 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO ORPHA:247585 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO MIM:266265 NCBI chr11:45,804,079...45,813,016
Ensembl chr11:45,804,072...45,813,016 		JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 IAGP HPO MIM:137580 NCBI chr13:83,877,205...83,882,474
Ensembl chr13:83,877,205...83,882,474 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO ORPHA:3051 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO MIM:616330 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO ORPHA:275864 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:2896 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO ORPHA:275864 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:275864 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP HPO MIM:620494 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO MIM:300860 ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:275864 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Palilalia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPT microtubule associated protein tau IAGP HPO ORPHA:240094 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO MIM:234200 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 IAGP HPO MIM:616413 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279 		JBrowse link
Phonic tics term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Phonic tics ClinVar PMID:25741868 PMID:32989326 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP HPO MIM:616973 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G HDC histidine decarboxylase IAGP HPO MIM:137580 NCBI chr15:50,241,947...50,265,726
Ensembl chr15:50,241,947...50,265,965 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO MIM:234200 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 IAGP HPO MIM:137580 NCBI chr13:83,877,205...83,882,474
Ensembl chr13:83,877,205...83,882,474 		JBrowse link
G SLITRK2 SLIT and NTRK like family member 2 IAGP HPO MIM:301107 NCBI chr  X:145,817,829...145,829,856
Ensembl chr  X:145,817,829...145,829,856 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 82305
    Phenotypic abnormality 81987
      Abnormality of the nervous system 29414
        Abnormal nervous system physiology 27277
          Abnormal central motor function 3059
            Involuntary vocalization 52
              Continuous involuntary vocalizations 0
              Coprolalia 0
              Echolalia + 46
              Klazomania 0
              Palilalia 3
              Phonic tics 7
paths to the root