Human Phenotype Ontology 
Grandparent Node:
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Abnormal circulating creatine kinase concentration (HP:0040081)help
Parent Node:
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Elevated circulating creatine kinase concentration (HP:0003236)help
..Starting node
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Extremely elevated creatine kinase (HP:0030235)help
Term ID: 30235
Name: Extremely elevated creatine kinase
Synonym: Extremely elevated CPK; Extremely elevated creatine phosphokinase; Extremely elevated phospho-CK serum level; Extremely elevated serum CK level; Extremely high CPK level
Definition: An increased creatine kinase level more than 50X above the upper normal level.
Comments:
Reference: HP:0030235
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandElevated creatine kinase after exercise (HP:0008331) help
..expandHighly elevated creatine kinase (HP:0030234) help
..expandMildly elevated creatine kinase (HP:0008180) 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:0030235HP:0030235Extremely elevated creatine kinase0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0030235HP:0030235Extremely elevated creatine kinase0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040282 - Frequent118


Genes (2) :MICU1 NEFL

Diseases (2) :OMIM:615673 ORPHA:99939
 

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