Human Phenotype Ontology

Last uploaded: August 13, 2024
Preferred Name

Myotonia
Synonyms

Delayed relaxation of muscle fibers after contraction

Delayed relaxation of muscle fibres after contraction

Definitions

An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers.

ID

http://purl.obolibrary.org/obo/HP_0002486

comment

Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers.

database_cross_reference

SNOMEDCT_US:3434004

UMLS:C0027125

definition

An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.

has_alternative_id

HP:0003754

HP:0003632

HP:0003792

has_exact_synonym

Delayed relaxation of muscle fibers after contraction

Delayed relaxation of muscle fibres after contraction

has_obo_namespace

human_phenotype

id

HP:0002486

label

Myotonia

notation

HP:0002486

prefLabel

Myotonia

treeView

http://purl.obolibrary.org/obo/HP_0011804

subClassOf

http://purl.obolibrary.org/obo/HP_0011804

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0002486 CCONT SAME_URI
http://purl.obolibrary.org/obo/HP_0002486 MONDO SAME_URI
http://purl.obolibrary.org/obo/HP_0002486 EFO SAME_URI
http://purl.obolibrary.org/obo/HP_0002486 UPHENO SAME_URI
http://www.co-ode.org/ontologies/galen#Myotonia GALEN LOOM
http://purl.org/obo/owl/HP#HP_0002486 BDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/3434004 SNOMEDCT LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/myotonia MEPO LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/myotonia EPISEM LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/myotonia NEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.613.700 RH-MESH LOOM
http://www.tcmkg.com/ISPO/ISPO_00001973 ISPO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#8444 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0027125 OCHV LOOM
http://doe-generated-ontology.com/OntoAD#C0027125 ONTOAD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.888.592.608.700 RH-MESH LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Myotonia APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Myotonia APAONTO LOOM
http://www.projecthalo.com/aura#Myotonia AURA LOOM
http://purl.bioontology.org/ontology/MESH/D009222 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D009222 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0002486 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0002486 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002486 UPHENO LOOM
http://purl.jp/bio/4/id/200906078722437379 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0010257 OMIT LOOM
http://www.limics.org/hrdo/rdfns#sgn_id_44100 HRDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10061533 MEDDRA LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1663 IFAR LOOM
http://purl.bioontology.org/ontology/SNMI/F-11430 SNMI LOOM
http://purl.jp/bio/4/id/kb0000001435 IOBC LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU002237 OMIM LOOM