Human Phenotype Ontology 
Grandparent Node:
expandAbnormal circulating creatine kinase concentration (HP:0040081)help
Parent Node:
expandElevated circulating creatine kinase concentration (HP:0003236)help
..Starting node
..expandHighly elevated creatine kinase (HP:0030234)help
Term ID: 30234
Name: Highly elevated creatine kinase
Synonym: Highly elevated CPK; Highly elevated creatine phosphokinase; Highly elevated serum CK; Highly elevated serum CPK; Highly elevated serum phosph-CK
Definition: An increased CPK level between 4X and 50X above the upper normal level.
Comments:
Reference: HP:0030234
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandElevated creatine kinase after exercise (HP:0008331) help
..expandExtremely elevated creatine kinase (HP:0030235) 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:0030234HP:0030234Highly elevated creatine kinase0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040282 - Frequent304
HP:0030234HP:0030234Highly elevated creatine kinase0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0030234HP:0030234Highly elevated creatine kinase0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0030234HP:0030234Highly elevated creatine kinase0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0030234HP:0030234Highly elevated creatine kinase0DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0030234HP:0030234Highly elevated creatine kinase0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040281 - Very frequent411
HP:0030234HP:0030234Highly elevated creatine kinase0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0030234HP:0030234Highly elevated creatine kinase0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0030234HP:0030234Highly elevated creatine kinase0PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiencyHP:0040281 - Very frequent166


Genes (9) :ANO5 COX1 COX3 CRPPA DPM3 LAMA2 LPIN1 POPDC3 PYGM

Diseases (7) :ORPHA:399096 ORPHA:99845 ORPHA:352479 OMIM:618992 ORPHA:258 OMIM:618848 ORPHA:368
 

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