Human Phenotype Ontology 
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Myoclonus (HP:0001336)help
..Starting node
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Morning myoclonic jerks (HP:0007000)help
Term ID: 7000
Name: Morning myoclonic jerks
Synonym:
Definition:
Comments:
Reference: HP:0007000
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChin myoclonus (HP:0012462) help
..expandCortical myoclonus (HP:0040148) help
..expandErratic myoclonus (HP:0025357) help
..expandEyelid myoclonus (HP:0025097) help
..expandLimb myoclonus (HP:0045084) help
..expandMyoclonic spasms (HP:0003739) help
..expandPalatal tremor (HP:0010530) help
..expandSleep myoclonus (HP:0012323) help
..expandSpinal myoclonus (HP:0010531) 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:0007000HP:0007000Morning myoclonic jerks0CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9.146
HP:0007000HP:0007000Morning myoclonic jerks0CACNB4 CL E G H7851404ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent146
HP:0007000HP:0007000Morning myoclonic jerks0CILK1 CL E G H2285821219ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent
HP:0007000HP:0007000Morning myoclonic jerks0CLCN2 CL E G H11812020ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent44
HP:0007000HP:0007000Morning myoclonic jerks0CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent51
HP:0007000HP:0007000Morning myoclonic jerks0EFHC1 CL E G H11432716406ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent153
HP:0007000HP:0007000Morning myoclonic jerks0EFHC1 CL E G H11432716406OMIM:254770Myoclonic epilepsy, juvenile, susceptibility to, 1.153
HP:0007000HP:0007000Morning myoclonic jerks0GABRA1 CL E G H25544075ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent134
HP:0007000HP:0007000Morning myoclonic jerks0GABRD CL E G H25634084ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent10
HP:0007000HP:0007000Morning myoclonic jerks0JRK CL E G H86296199ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent
HP:0007000HP:0007000Morning myoclonic jerks0KCNQ3 CL E G H37866297ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent302
HP:0007000HP:0007000Morning myoclonic jerks0PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent133
HP:0007000HP:0007000Morning myoclonic jerks0SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent77


Genes (11) :CACNB4 CILK1 CLCN2 CSTB EFHC1 GABRA1 GABRD JRK KCNQ3 PRICKLE1 SCARB2

Diseases (4) :OMIM:607682 ORPHA:307 ORPHA:308 OMIM:254770
 

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