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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:Impaired oropharyngeal swallow response
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Accession:HP:0031162 term browser browse the term
Definition:Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.
Comment:In the involuntary pharyngeal phase, the soft palate rises to close the nasopharynx and prevent nasal regurgitations. The hyoid bone rises, bringing the larynx up, while the epiglottis closes the entrance to the larynx. The base of the tongue contacts the pharyngeal wall, at the same time as the hyoid moves forward, coinciding with the relaxation of the cricopharyngeus muscle and the opening of the upper esophageal sphincter.


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Impaired oropharyngeal swallow response term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:613706 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		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 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 NGLY1 N-glycanase 1 IAGP HPO MIM:615273 ORPHA:404454 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 PLAA phospholipase A2 activating protein IAGP HPO ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:98916 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		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 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 TAF1 TATA-box binding protein associated factor 1 IAGP HPO ORPHA:53351 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the nervous system 28558
        Abnormal nervous system physiology 26589
          Dysphagia 547
            Impaired oropharyngeal swallow response 14
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the digestive system 10578
        Abnormality of the gastrointestinal tract 7667
          Functional abnormality of the gastrointestinal tract 4501
            Abnormal esophagus physiology 1273
              Dysphagia 547
                Impaired oropharyngeal swallow response 14
paths to the root