Human Phenotype Ontology 
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Muscle flaccidity (HP:0010547)help
..Starting node
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Episodic flaccid weakness (HP:0003752)help
Term ID: 3752
Name: Episodic flaccid weakness
Synonym:
Definition: Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.
Comments:
Reference: HP:0003752
Genes and Diseases:
 
       Child Nodes:

 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:0003752HP:0003752Episodic flaccid weakness0CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysisHP:0040281 - Very frequent247
HP:0003752HP:0003752Episodic flaccid weakness0CACNA1S CL E G H7791397OMIM:170400Hypokalemic periodic paralysis, type 1.247
HP:0003752HP:0003752Episodic flaccid weakness0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent247
HP:0003752HP:0003752Episodic flaccid weakness0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent
HP:0003752HP:0003752Episodic flaccid weakness0KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysisHP:0040281 - Very frequent73
HP:0003752HP:0003752Episodic flaccid weakness0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent10
HP:0003752HP:0003752Episodic flaccid weakness0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040281 - Very frequent193
HP:0003752HP:0003752Episodic flaccid weakness0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040281 - Very frequent128
HP:0003752HP:0003752Episodic flaccid weakness0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040281 - Very frequent263
HP:0003752HP:0003752Episodic flaccid weakness0SCN4A CL E G H632910591OMIM:170500Hyperkalemic periodic paralysis.263
HP:0003752HP:0003752Episodic flaccid weakness0SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysisHP:0040281 - Very frequent263
HP:0003752HP:0003752Episodic flaccid weakness0SCN4A CL E G H632910591OMIM:170400Hypokalemic periodic paralysis, type 1.263
HP:0003752HP:0003752Episodic flaccid weakness0SCN4A CL E G H632910591OMIM:613345Hypokalemic periodic paralysis, type 2.263


Genes (7) :CACNA1S GABRA3 KCNE3 KCNJ18 KCNJ2 KCNJ5 SCN4A

Diseases (7) :ORPHA:681 OMIM:170400 ORPHA:79102 ORPHA:37553 ORPHA:682 OMIM:170500 OMIM:613345
 

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