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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Neuromuscular dysphagia (HP:0002068)help
Term ID: 2068
Name: Neuromuscular dysphagia
Synonym:
Definition:
Comments:
Reference: HP:0002068
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandImpaired oral bolus formation (HP:0031146) help
..expandImpaired oropharyngeal swallow response (HP:0031162) 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:0002068HP:0002068Neuromuscular dysphagia0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent96
HP:0002068HP:0002068Neuromuscular dysphagia0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0002068HP:0002068Neuromuscular dysphagia0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0002068HP:0002068Neuromuscular dysphagia0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0002068HP:0002068Neuromuscular dysphagia0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent80
HP:0002068HP:0002068Neuromuscular dysphagia0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent13
HP:0002068HP:0002068Neuromuscular dysphagia0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040283 - Occasional140
HP:0002068HP:0002068Neuromuscular dysphagia0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040283 - Occasional140
HP:0002068HP:0002068Neuromuscular dysphagia0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent217
HP:0002068HP:0002068Neuromuscular dysphagia0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent745
HP:0002068HP:0002068Neuromuscular dysphagia0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent54
HP:0002068HP:0002068Neuromuscular dysphagia0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent108


Genes (11) :ACTA1 COQ2 FARS2 GALC KBTBD13 KLHL41 MAPT MYPN NEB TPM2 TPM3

Diseases (6) :ORPHA:171439 ORPHA:227510 ORPHA:466722 ORPHA:206443 ORPHA:240071 ORPHA:240085
 

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