Human Phenotype Ontology 
Grandparent Node:
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EMG abnormality (HP:0003457)help
Parent Node:
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EMG: impaired neuromuscular transmission (HP:0100285)help
Parent Node:
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Single fiber EMG abnormality (HP:0030006)help
..Starting node
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Increased jitter at single fiber EMG (HP:0030205)help
Term ID: 30205
Name: Increased jitter at single fiber EMG
Synonym: Increased jitter at single fibre electromyography; Increased jitter at single fibre EMG
Definition: The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).
Comments:
Reference: HP:0030205
Genes and Diseases:
 
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 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030205HP:0030205Increased jitter at single fiber EMG0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent12
HP:0030205HP:0030205Increased jitter at single fiber EMG0ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0030205HP:0030205Increased jitter at single fiber EMG0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent46
HP:0030205HP:0030205Increased jitter at single fiber EMG0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent38
HP:0030205HP:0030205Increased jitter at single fiber EMG0DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates38
HP:0030205HP:0030205Increased jitter at single fiber EMG0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent128
HP:0030205HP:0030205Increased jitter at single fiber EMG0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent34
HP:0030205HP:0030205Increased jitter at single fiber EMG0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28


Genes (6) :ALG14 ALG2 DPAGT1 GFPT1 GMPPB SLC25A1

Diseases (4) :ORPHA:353327 OMIM:616227 OMIM:614750 OMIM:618197
 

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