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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:Oral-pharyngeal dysphagia
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Accession:HP:0200136 term browser browse the term
Synonyms:exact_synonym: Oropharyngeal dysphagia
 xref: SNOMEDCT_US:71457002;   UMLS:C0267071



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Oral-pharyngeal dysphagia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY6 adenylate cyclase 6 IAGP HPO MIM:616287 NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,194...48,789,089
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
JBrowse link
G ASPA aspartoacylase IAGP HPO ORPHA:314911 NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:2131 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO ORPHA:2131 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Oropharyngeal dysphagia ClinVar PMID:25741868 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:199306 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:2131 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:199306 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:616286 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993
JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
JBrowse link
G EXOSC9 exosome component 9 IAGP HPO MIM:618065 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021
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 GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO ORPHA:98897 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP HPO ORPHA:99772 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO ORPHA:208447 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
JBrowse link
G HTT huntingtin IAGP HPO ORPHA:399 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:199306 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO ORPHA:98897 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO ORPHA:254930 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:199306 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO MIM:615273 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:98897 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO ORPHA:98897 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719
JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP HPO MIM:619184 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079
JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP HPO ORPHA:2524 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550
JBrowse link
G SLC1A3 solute carrier family 1 member 3 IAGP HPO ORPHA:2131 NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334
JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP HPO ORPHA:399 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007
JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO MIM:300966 ORPHA:480907 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374
JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO MIM:616878 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:199306 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP HPO ORPHA:2524 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978
JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP HPO ORPHA:2524 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549
JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 IAGP HPO ORPHA:2524 NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,938...54,194,536
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO ORPHA:2524 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735
JBrowse link
G UBB ubiquitin B IAGP HPO ORPHA:99772 NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
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
          Dysphagia 564
            Oral-pharyngeal dysphagia 46
Path 2
Term Annotations click to browse term
  Human phenotype 82305
    Phenotypic abnormality 81987
      Abnormality of the digestive system 12235
        Abnormality of the gastrointestinal tract 9162
          Functional abnormality of the gastrointestinal tract 5918
            Abnormal esophagus physiology 1465
              Dysphagia 564
                Oral-pharyngeal dysphagia 46
paths to the root