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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Dysphagia (HP:0002015)help
..Starting node
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Impaired oral bolus formation (HP:0031146)help
Term ID: 31146
Name: Impaired oral bolus formation
Synonym:
Definition: An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.
Comments:
Reference: HP:0031146
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandImpaired oropharyngeal swallow response (HP:0031162) help
..expandNeuromuscular dysphagia (HP:0002068) help
..expandOral-pharyngeal dysphagia (HP:0200136) 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:0031146HP:0031146Impaired oral bolus formation0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0031146HP:0031146Impaired oral bolus formation0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32


Genes (1) :NGLY1

Diseases (2) :ORPHA:404454 OMIM:615273
 

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