Human Phenotype Ontology 
Grandparent Node:
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Hypotonia (HP:0001252)help
Parent Node:
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Abnormal synaptic transmission at the neuromuscular junction (HP:0003398)help
Parent Node:
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Generalized hypotonia (HP:0001290)help
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Generalized hypotonia due to defect at the neuromuscular junction (HP:0003397)help
Term ID: 3397
Name: Generalized hypotonia due to defect at the neuromuscular junction
Synonym: Generalised hypotonia due to defect at the neuromuscular junction
Definition:
Comments:
Reference: HP:0003397
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEpisodic generalized hypotonia (HP:0006852) 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:0003397HP:0003397Generalized hypotonia due to defect at the neuromuscular junction0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0003397HP:0003397Generalized hypotonia due to defect at the neuromuscular junction0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139


Genes (2) :CHAT CHRNE

Diseases (2) :OMIM:254210 OMIM:605809
 

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