Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal peripheral nervous system synaptic transmission (HP:0030191)

Parent Node:
Abnormal synaptic transmission at the neuromuscular junction (HP:0003398)

..Starting node
..Prolonged miniature endplate currents (HP:0003436)

Term ID:

3436

Name:

Prolonged miniature endplate currents

Synonym:

Prolonged MEPC; Prolonged MEPP; Prolonged miniature endplate potentials

Definition:

An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.

Comments:

Reference:

HP:0003436

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased miniature endplate potentials (HP:0003402)

Fatigable weakness (HP:0003473)

Generalized hypotonia due to defect at the neuromuscular junction (HP:0003397)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003436	HP:0003436	Prolonged miniature endplate currents	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.	74
HP:0003436	HP:0003436	Prolonged miniature endplate currents	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0003436	HP:0003436	Prolonged miniature endplate currents	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0003436	HP:0003436	Prolonged miniature endplate currents	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0003436	HP:0003436	Prolonged miniature endplate currents	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	92

Genes (4) :CHRNA1 CHRND COLQ LAMB2

Diseases (4) :OMIM:601462 OMIM:616321 OMIM:603034 ORPHA:98915

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

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