Human Phenotype Ontology 
Grandparent Node:
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Abnormal esophagus physiology (HP:0025270)help
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of the pharynx (HP:0000600)help
Parent Node:
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Dysphagia (HP:0002015)help
..Starting node
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Oral-pharyngeal dysphagia (HP:0200136)help
Term ID: 200136
Name: Oral-pharyngeal dysphagia
Synonym: Oral pharyngeal dysphagia; Oropharyngeal dysphagia
Definition:
Comments:
Reference: HP:0200136
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandImpaired oral bolus formation (HP:0031146) help
..expandImpaired oropharyngeal swallow response (HP:0031162) help
..expandNeuromuscular dysphagia (HP:0002068) help
..expandPseudobulbar paralysis (HP:0007024) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200136HP:0200136Oral-pharyngeal dysphagia0ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 8.2
HP:0200136HP:0200136Oral-pharyngeal dysphagia0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040282 - Frequent47
HP:0200136HP:0200136Oral-pharyngeal dysphagia0ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040282 - Frequent6
HP:0200136HP:0200136Oral-pharyngeal dysphagia0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040282 - Frequent48
HP:0200136HP:0200136Oral-pharyngeal dysphagia0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0200136HP:0200136Oral-pharyngeal dysphagia0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0200136HP:0200136Oral-pharyngeal dysphagia0BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040282 - Frequent38
HP:0200136HP:0200136Oral-pharyngeal dysphagia0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0200136HP:0200136Oral-pharyngeal dysphagia0CDH1 CL E G H9991748ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1003
HP:0200136HP:0200136Oral-pharyngeal dysphagia0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0200136HP:0200136Oral-pharyngeal dysphagia0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0200136HP:0200136Oral-pharyngeal dysphagia0DLG1 CL E G H17392900ORPHA:199306Cleft lip/palateHP:0040282 - Frequent
HP:0200136HP:0200136Oral-pharyngeal dysphagia0DLX4 CL E G H17482917ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1
HP:0200136HP:0200136Oral-pharyngeal dysphagia0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0200136HP:0200136Oral-pharyngeal dysphagia0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome.332
HP:0200136HP:0200136Oral-pharyngeal dysphagia0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0200136HP:0200136Oral-pharyngeal dysphagia0GRHL3 CL E G H5782225839ORPHA:99772Cleft velumHP:0040282 - Frequent12
HP:0200136HP:0200136Oral-pharyngeal dysphagia0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0200136HP:0200136Oral-pharyngeal dysphagia0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040283 - Occasional12
HP:0200136HP:0200136Oral-pharyngeal dysphagia0IRF6 CL E G H36646121ORPHA:199306Cleft lip/palateHP:0040282 - Frequent99
HP:0200136HP:0200136Oral-pharyngeal dysphagia0MSX1 CL E G H44877391ORPHA:199306Cleft lip/palateHP:0040282 - Frequent12
HP:0200136HP:0200136Oral-pharyngeal dysphagia0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0200136HP:0200136Oral-pharyngeal dysphagia0NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palateHP:0040282 - Frequent4
HP:0200136HP:0200136Oral-pharyngeal dysphagia0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0200136HP:0200136Oral-pharyngeal dysphagia0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0200136HP:0200136Oral-pharyngeal dysphagia0PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palateHP:0040282 - Frequent337
HP:0200136HP:0200136Oral-pharyngeal dysphagia0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040282 - Frequent150
HP:0200136HP:0200136Oral-pharyngeal dysphagia0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0200136HP:0200136Oral-pharyngeal dysphagia0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent66
HP:0200136HP:0200136Oral-pharyngeal dysphagia0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0200136HP:0200136Oral-pharyngeal dysphagia0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040283 - Occasional1
HP:0200136HP:0200136Oral-pharyngeal dysphagia0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0200136HP:0200136Oral-pharyngeal dysphagia0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040282 - Frequent21
HP:0200136HP:0200136Oral-pharyngeal dysphagia0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.12
HP:0200136HP:0200136Oral-pharyngeal dysphagia0TP63 CL E G H862615979ORPHA:199306Cleft lip/palateHP:0040282 - Frequent140
HP:0200136HP:0200136Oral-pharyngeal dysphagia0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent3
HP:0200136HP:0200136Oral-pharyngeal dysphagia0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent84
HP:0200136HP:0200136Oral-pharyngeal dysphagia0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent57
HP:0200136HP:0200136Oral-pharyngeal dysphagia0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent102
HP:0200136HP:0200136Oral-pharyngeal dysphagia0UBB CL E G H731412463ORPHA:99772Cleft velumHP:0040282 - Frequent
HP:0200136HP:0200136Oral-pharyngeal dysphagia0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0200136HP:0200136Oral-pharyngeal dysphagia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (41) :ADCY6 ADNP ARHGAP29 ASPA ATP1A2 ATP1A3 BMP4 CACNA1A CDH1 CNTNAP1 CTNS DLG1 DLX4 EXOSC9 FLCN GIPC1 GRHL3 GRIN1 HTT IRF6 MSX1 MTRFR NECTIN1 NGLY1 NOTCH2NLC PDGFRA RAI1 SCUBE3 SEPSECS SLC1A3 SLC2A3 TAF1 TANGO2 TP63 TSEN15 TSEN2 TSEN34 TSEN54 UBB YY1 ZNF699

Diseases (23) :OMIM:616287 ORPHA:404448 ORPHA:199306 ORPHA:314911 ORPHA:2131 OMIM:616286 OMIM:219800 OMIM:618065 OMIM:610883 ORPHA:98897 ORPHA:99772 ORPHA:208447 ORPHA:399 ORPHA:254930 OMIM:615273 ORPHA:1713 OMIM:619184 ORPHA:2524 OMIM:300966 ORPHA:480907 OMIM:616878 ORPHA:506358 OMIM:619488
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.